Non-syndromic retinitis pigmentosa

[1]  Daniel Bell,et al.  Ciliopathies , 2018, Radiopaedia.org.

[2]  Emily J Patterson,et al.  Adaptive optics imaging of inherited retinal diseases , 2017, British Journal of Ophthalmology.

[3]  Q. Huang,et al.  Efficacy of carbonic anhydrase inhibitors in management of cystoid macular edema in retinitis pigmentosa: A meta-analysis , 2017, PloS one.

[4]  M. Sandberg,et al.  The Genetic Basis of Pericentral Retinitis Pigmentosa—A Form of Mild Retinitis Pigmentosa , 2017, Genes.

[5]  Gabriëlle H S Buitendijk,et al.  Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies? , 2017, American journal of ophthalmology.

[6]  F. Wang,et al.  Morphologic characteristics and clinical significance of the macular-sparing area in patients with retinitis pigmentosa as revealed by multicolor imaging , 2017, Experimental and therapeutic medicine.

[7]  Ruikang K. Wang,et al.  Optical coherence tomography angiography: A comprehensive review of current methods and clinical applications , 2017, Progress in Retinal and Eye Research.

[8]  Kathleen A. Marshall,et al.  Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial , 2017, The Lancet.

[9]  Albrecht Rothermel,et al.  Interim Results of a Multicenter Trial with the New Electronic Subretinal Implant Alpha AMS in 15 Patients Blind from Inherited Retinal Degenerations , 2017, Front. Neurosci..

[10]  S. Tsang,et al.  Evaluating Structural Progression of Retinitis Pigmentosa After Cataract Surgery. , 2017, American journal of ophthalmology.

[11]  J. Reiter,et al.  Genes and molecular pathways underpinning ciliopathies , 2017, Nature Reviews Molecular Cell Biology.

[12]  M. Michaelides,et al.  Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions , 2017, British Journal of Ophthalmology.

[13]  C. Klaver,et al.  Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma. , 2017, Ophthalmology.

[14]  C. Klaver,et al.  Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study. , 2017, Ophthalmology.

[15]  J. Mills,et al.  Electronic retinal implants and artificial vision: journey and present , 2017, Eye.

[16]  Zhimin Tang,et al.  Progress of stem/progenitor cell-based therapy for retinal degeneration , 2017, Journal of Translational Medicine.

[17]  S. Yoshida,et al.  Risk Factors for Posterior Subcapsular Cataract in Retinitis Pigmentosa. , 2017, Investigative ophthalmology & visual science.

[18]  V. Arshavsky,et al.  Photoreceptor discs form through peripherin-dependent suppression of ciliary ectosome release , 2017, The Journal of cell biology.

[19]  R. Collin,et al.  Applications of antisense oligonucleotides for the treatment of inherited retinal diseases , 2017, Current opinion in ophthalmology.

[20]  C. Thompson,et al.  Arl3 and RP2 regulate the trafficking of ciliary tip kinesins , 2017, Human molecular genetics.

[21]  L. Pelletier,et al.  The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate , 2017, Molecules and cells.

[22]  S. Banerjee,et al.  Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber’s congenital amaurosis in unrelated Chinese patients , 2017, Oncotarget.

[23]  E. Souied,et al.  Type 3 Neovascularization Associated with Retinitis Pigmentosa , 2017, Case Reports in Ophthalmology.

[24]  Fei Liu,et al.  Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy , 2017, Scientific Reports.

[25]  H. Ahn,et al.  Prevalence, Age at Diagnosis, Mortality, and Cause of Death in Retinitis Pigmentosa in Korea-A Nationwide Population-based Study. , 2017, American journal of ophthalmology.

[26]  S. Tsang,et al.  Quantifying Fundus Autofluorescence in Patients With Retinitis Pigmentosa , 2017, Investigative ophthalmology & visual science.

[27]  David A Borton,et al.  Advances in Retinal Prosthetic Research: A Systematic Review of Engineering and Clinical Characteristics of Current Prosthetic Initiatives , 2017, Current eye research.

[28]  B. J. Klevering,et al.  Lipofuscin-associated photo-oxidative stress during fundus autofluorescence imaging , 2017, PloS one.

[29]  R. Pfundt,et al.  Diagnostic exome sequencing in 266 Dutch patients with visual impairment , 2017, European Journal of Human Genetics.

[30]  Sri V. V. Deevi,et al.  Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. , 2017, American journal of human genetics.

[31]  P. Serrano-Aguilar,et al.  Effectiveness and safety of nutritional supplements in the treatment of hereditary retinal dystrophies: a systematic review , 2017, Eye.

[32]  B. Lorenz,et al.  In vivo genome editing as a potential treatment strategy for inherited retinal dystrophies , 2017, Progress in Retinal and Eye Research.

[33]  L. Vannozzi,et al.  Retinal capillaritis in a CRB1-associated retinal dystrophy , 2017, Ophthalmic genetics.

[34]  D. Schorderet,et al.  Exome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa , 2017, Ophthalmic genetics.

[35]  A. Nager,et al.  An Actin Network Dispatches Ciliary GPCRs into Extracellular Vesicles to Modulate Signaling , 2017, Cell.

[36]  Dorothy A. Thompson,et al.  Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. , 2017, American journal of human genetics.

[37]  R. Huckfeldt,et al.  Management of Cystoid Macular Edema in Retinitis Pigmentosa , 2017, Seminars in ophthalmology.

[38]  A. J. Roman,et al.  Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration. , 2016, Human molecular genetics.

[39]  B. Roska,et al.  Emerging therapies for inherited retinal degeneration , 2016, Science Translational Medicine.

[40]  G. Liew,et al.  Retinitis pigmentosa-associated cystoid macular oedema: pathogenesis and avenues of intervention , 2016, British Journal of Ophthalmology.

[41]  E. Lorentzen,et al.  The intraflagellar transport machinery in ciliary signaling. , 2016, Current opinion in structural biology.

[42]  Amna Z. Shah,et al.  EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones , 2016, PloS one.

[43]  David S. Williams,et al.  Molecular basis for photoreceptor outer segment architecture , 2016, Progress in Retinal and Eye Research.

[44]  Bhubanananda Sahu,et al.  Retinol Dehydrogenases Regulate Vitamin A Metabolism for Visual Function , 2016, Nutrients.

[45]  T. Radstake,et al.  Systemic inflammatory immune signatures in a patient with CRB1 linked retinal dystrophy , 2016, Expert review of clinical immunology.

[46]  Gislin Dagnelie,et al.  Five-Year Safety and Performance Results from the Argus II Retinal Prosthesis System Clinical Trial. , 2016, Ophthalmology.

[47]  J. Duncan,et al.  Long-term Follow-up of Patients With Retinitis Pigmentosa Receiving Intraocular Ciliary Neurotrophic Factor Implants. , 2016, American journal of ophthalmology.

[48]  F. Gekeler,et al.  Transcorneal electrical stimulation for the treatment of retinitis pigmentosa: results from the TESOLAUK trial , 2016, BMJ Open Ophthalmology.

[49]  M. V. van Genderen,et al.  Retinal Dystrophy in 6 Young Patients Who Presented with Intermediate Uveitis. , 2016, Ophthalmology.

[50]  S. Nampoothiri,et al.  Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management , 2016, Indian journal of ophthalmology.

[51]  S. Yoshida,et al.  Association Between Aqueous Flare and Epiretinal Membrane in Retinitis Pigmentosa. , 2016, Investigative ophthalmology & visual science.

[52]  Fang Wang,et al.  Optical Coherence Tomographic Analysis of Retina in Retinitis Pigmentosa Patients , 2016, Ophthalmic Research.

[53]  Jason M. Brown,et al.  Together, the IFT81 and IFT74 N-termini form the main module for intraflagellar transport of tubulin , 2016, Journal of Cell Science.

[54]  Christopher S. Langlo,et al.  Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome , 2016, Investigative ophthalmology & visual science.

[55]  P. Robinson,et al.  Confirmation of TTC8 as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51) , 2016, Clinical genetics.

[56]  L. el Matri,et al.  Spectral Domain optical coherence tomography findings in patients with retinitis pigmentosa. , 2016, La Tunisie medicale.

[57]  B. Hafler,et al.  Course of Ocular Function in PRPF31 Retinitis Pigmentosa , 2016, Seminars in ophthalmology.

[58]  S. Chakradhar An eye to the future: Researchers debate best path for stem cell–derived therapies , 2016, Nature Medicine.

[59]  W. Hauswirth,et al.  Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial , 2016, Human Genetics.

[60]  Ava K. Bittner,et al.  Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) , 2015, PloS one.

[61]  V. Arshavsky,et al.  Discs of mammalian rod photoreceptors form through the membrane evagination mechanism , 2015, The Journal of cell biology.

[62]  C. Bonifazzi,et al.  The Role of the Endothelin System in the Vascular Dysregulation Involved in Retinitis Pigmentosa , 2015, Journal of ophthalmology.

[63]  P. Humphries,et al.  A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration , 2015, British Journal of Ophthalmology.

[64]  A. J. Roman,et al.  Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration. , 2015, Investigative ophthalmology & visual science.

[65]  A. Wright,et al.  RPGR: Its role in photoreceptor physiology, human disease, and future therapies , 2015, Experimental eye research.

[66]  L. Ayton,et al.  Charles Bonnet Syndrome in Advanced Retinitis Pigmentosa. , 2015, Ophthalmology.

[67]  Y. Murakami,et al.  Vitreous cysts in patients with retinitis pigmentosa , 2015, Japanese Journal of Ophthalmology.

[68]  Y. Murakami,et al.  Long-term Surgical Outcomes of Epiretinal Membrane in Patients with Retinitis Pigmentosa , 2015, Scientific Reports.

[69]  H. Skirton,et al.  Impact of presymptomatic genetic testing on young adults: a systematic review , 2015, European Journal of Human Genetics.

[70]  Igor Kozak,et al.  Update on wide- and ultra-widefield retinal imaging , 2015, Indian journal of ophthalmology.

[71]  W. Gan,et al.  Microglial phagocytosis of living photoreceptors contributes to inherited retinal degeneration , 2015, EMBO molecular medicine.

[72]  E. Campos,et al.  ET-1 Plasma Levels, Aqueous Flare, and Choroidal Thickness in Patients with Retinitis Pigmentosa , 2015, Journal of ophthalmology.

[73]  E. Zrenner,et al.  Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene , 2015, Acta ophthalmologica.

[74]  Y. Murakami,et al.  Factors affecting visual acuity after cataract surgery in patients with retinitis pigmentosa. , 2015, Ophthalmology.

[75]  B. J. Klevering,et al.  Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia , 2015, British Journal of Ophthalmology.

[76]  J. Dopazo,et al.  Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations. , 2015, Human molecular genetics.

[77]  S. Tsang,et al.  Bilateral Concordance of the Fundus Hyperautofluorescent Ring in Typical Retinitis Pigmentosa Patients , 2015, Ophthalmic genetics.

[78]  G. Holder,et al.  Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy. , 2015, Investigative ophthalmology & visual science.

[79]  Yu Sawada,et al.  Structure and function of the interphotoreceptor matrix surrounding retinal photoreceptor cells. , 2015, Experimental eye research.

[80]  P. Stoilov,et al.  Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa , 2015, Molecular and Cellular Biology.

[81]  G. Mardon,et al.  Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. , 2015, Human molecular genetics.

[82]  Anthony G. Robson,et al.  Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms , 2015, Progress in Retinal and Eye Research.

[83]  D. Sharon,et al.  Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. , 2015, JAMA ophthalmology.

[84]  G. Liew,et al.  Efficacy and prognostic factors of response to carbonic anhydrase inhibitors in management of cystoid macular edema in retinitis pigmentosa. , 2015, Investigative ophthalmology & visual science.

[85]  Zi-Bing Jin,et al.  Identification of false-negative mutations missed by next-generation sequencing in retinitis pigmentosa patients: a complementary approach to clinical genetic diagnostic testing , 2015, Genetics in Medicine.

[86]  T. Léveillard,et al.  Viral-mediated RdCVF and RdCVFL expression protects cone and rod photoreceptors in retinal degeneration. , 2015, The Journal of clinical investigation.

[87]  Michael Bach,et al.  ISCEV Standard for full-field clinical electroretinography (2015 update) , 2014, Documenta Ophthalmologica.

[88]  A. Nager,et al.  Structural Basis for Membrane Targeting of the BBSome by ARL6 , 2014, Nature Structural &Molecular Biology.

[89]  P. Garriga,et al.  Differential Light-induced Responses in Sectorial Inherited Retinal Degeneration* , 2014, The Journal of Biological Chemistry.

[90]  A. Hagiwara,et al.  Relationship between retinal microstructures and visual acuity after cataract surgery in patients with retinitis pigmentosa , 2014, British Journal of Ophthalmology.

[91]  R. Wilson,et al.  A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa. , 2014, Investigative ophthalmology & visual science.

[92]  R. Sergott Retinal Segmentation Using Multicolor Laser Imaging , 2014, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

[93]  Kanxing Zhao,et al.  Targeted Next-Generation Sequencing Reveals Novel USH2A Mutations Associated with Diverse Disease Phenotypes: Implications for Clinical and Molecular Diagnosis , 2014, PloS one.

[94]  J. Villard,et al.  Potential and Limitation of HLA-Based Banking of Human Pluripotent Stem Cells for Cell Therapy , 2014, Journal of immunology research.

[95]  B. J. Klevering,et al.  IMPG2-associated retinitis pigmentosa displays relatively early macular involvement. , 2014, Investigative ophthalmology & visual science.

[96]  J. Kaylor,et al.  Identification of the 11-cis-specific retinyl-ester synthase in retinal Müller cells as multifunctional O-acyltransferase (MFAT) , 2014, Proceedings of the National Academy of Sciences.

[97]  Ken Ogino,et al.  PREVALENCE AND SPATIAL DISTRIBUTION OF CYSTOID SPACES IN RETINITIS PIGMENTOSA: Investigation With Spectral Domain Optical Coherence Tomography , 2014, Retina.

[98]  K. So,et al.  Suppression of Microglial Activation Is Neuroprotective in a Mouse Model of Human Retinitis Pigmentosa , 2014, The Journal of Neuroscience.

[99]  F. Cremers,et al.  A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma , 2014, Journal of Medical Genetics.

[100]  F. Cremers,et al.  Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial , 2014, The Lancet.

[101]  Masayuki Hata,et al.  Intraretinal hyperreflective foci on spectral-domain optical coherence tomographic images of patients with retinitis pigmentosa. , 2014, Clinical ophthalmology.

[102]  P. Melillo,et al.  Macular abnormalities in Italian patients with retinitis pigmentosa , 2014, British Journal of Ophthalmology.

[103]  Xue Wang,et al.  Vitamin A and fish oils for retinitis pigmentosa. , 2013, The Cochrane database of systematic reviews.

[104]  Shannon M. Conley,et al.  A perspective on the role of the extracellular matrix in progressive retinal degenerative disorders. , 2013, Investigative ophthalmology & visual science.

[105]  P. Kner,et al.  A Differential Cargo-Loading Model of Ciliary Length Regulation by IFT , 2013, Current Biology.

[106]  N. Marzouka,et al.  Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations , 2013, Molecular vision.

[107]  Eberhart Zrenner,et al.  Fighting Blindness with Microelectronics , 2013, Science Translational Medicine.

[108]  Xavier Zanlonghi,et al.  Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1. , 2013, JAMA ophthalmology.

[109]  S. Tsang,et al.  OUTER RETINAL TUBULATION IN DEGENERATIVE RETINAL DISORDERS , 2013, Retina.

[110]  Makoto Nakamura,et al.  Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene , 2013, Proceedings of the National Academy of Sciences.

[111]  N. Yoshimura,et al.  Wide-field fundus autofluorescence imaging of retinitis pigmentosa. , 2013, Ophthalmology.

[112]  E. Nigg,et al.  Molecular Basis of Tubulin Transport Within the Cilium by IFT74 and IFT81 , 2013, Science.

[113]  M. Parodi,et al.  Spectral Domain Optical Coherence Tomography Findings in Patients with Retinitis Pigmentosa , 2013, Ophthalmic Research.

[114]  X. Sheng,et al.  Identification of a novel p.R1443W mutation in RP1 gene associated with retinitis pigmentosa sine pigmento. , 2013, International journal of ophthalmology.

[115]  B. Engel,et al.  Intraflagellar transport complex structure and cargo interactions , 2013, Cilia.

[116]  Elena F. Koslover,et al.  Single molecule imaging reveals a major role for diffusion in the exploration of ciliary space by signaling receptors , 2013, eLife.

[117]  A. Roorda,et al.  Visual Psychophysics and Physiological Optics Relationship Between Foveal Cone Structure and Clinical Measures of Visual Function in Patients With Inherited Retinal Degenerations , 2013 .

[118]  B. Yashar,et al.  Providing comprehensive genetic‐based ophthalmic care , 2013, Clinical genetics.

[119]  Jennifer H. Acton,et al.  Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa. , 2013, Experimental eye research.

[120]  W. Mieler,et al.  Cataract extraction outcomes and the prevalence of zonular insufficiency in retinitis pigmentosa. , 2013, American journal of ophthalmology.

[121]  K. Bartz-Schmidt,et al.  Long-term clinical results after cataract surgery with and without capsular tension ring in patients with retinitis pigmentosa: a retrospective study , 2013, BMJ Open.

[122]  C. Shields,et al.  Retinal vasoproliferative tumors: comparative clinical features of primary vs secondary tumors in 334 cases. , 2013, JAMA ophthalmology.

[123]  Szilárd Kiss,et al.  Wide-field imaging of the retina. , 2013, Survey of ophthalmology.

[124]  Fowzan S Alkuraya,et al.  Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes , 2013, Genome research.

[125]  Y. Koutalos,et al.  New insights into retinoid metabolism and cycling within the retina , 2013, Progress in Retinal and Eye Research.

[126]  V. Greenstein,et al.  Comparison of near-infrared and short-wavelength autofluorescence in retinitis pigmentosa. , 2013, Investigative ophthalmology & visual science.

[127]  J. Jonas,et al.  Prevalence of retinitis pigmentosa in India: the Central India Eye and Medical Study , 2012, Acta ophthalmologica.

[128]  L. Galli-Resta,et al.  Long-term decline of central cone function in retinitis pigmentosa evaluated by focal electroretinogram. , 2012, Investigative ophthalmology & visual science.

[129]  R. Aramant,et al.  Cell replacement and visual restoration by retinal sheet transplants , 2012, Progress in Retinal and Eye Research.

[130]  B. J. Klevering,et al.  BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. , 2012, Archives of ophthalmology.

[131]  A. D. den Hollander,et al.  Non-syndromic retinal ciliopathies: translating gene discovery into therapy. , 2012, Human molecular genetics.

[132]  Steven Nusinowitz,et al.  Identification of DES1 as a Vitamin A Isomerase in Müller Glial Cells of the Retina , 2012, Nature chemical biology.

[133]  G. Holder,et al.  Comparison of fundus autofluorescence with photopic and scotopic fine matrix mapping in patients with retinitis pigmentosa: 4- to 8-year follow-up. , 2012, Investigative ophthalmology & visual science.

[134]  Y. Hwang,et al.  Optic Nerve Head, Retinal Nerve Fiber Layer, and Macular Thickness Measurements in Young Patients with Retinitis Pigmentosa , 2012, Current eye research.

[135]  D. Schorderet,et al.  Double concentric autofluorescence ring in NR2E3-p.G56R-linked autosomal dominant retinitis pigmentosa. , 2012, Investigative ophthalmology & visual science.

[136]  A. Stockman,et al.  Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study. , 2012, Investigative ophthalmology & visual science.

[137]  A. Messias,et al.  Psychophysically determined full-field stimulus thresholds (FST) in retinitis pigmentosa: relationships with electroretinography and visual field outcomes , 2012, Documenta Ophthalmologica.

[138]  F. Riemslag,et al.  A homozygous frameshift mutation in LRAT causes retinitis punctata albescens. , 2012, Ophthalmology.

[139]  P. Taschner,et al.  In search of triallelism in Bardet–Biedl syndrome , 2012, European Journal of Human Genetics.

[140]  E. Lorentzen,et al.  Architecture and function of IFT complex proteins in ciliogenesis. , 2012, Differentiation; research in biological diversity.

[141]  R. Carr,et al.  STRUCTURAL AND FUNCTIONAL CHANGES ASSOCIATED WITH NORMAL AND ABNORMAL FUNDUS AUTOFLUORESCENCE IN PATIENTS WITH RETINITIS PIGMENTOSA , 2012, Retina.

[142]  David H. Sliney,et al.  The susceptibility of the retina to photochemical damage from visible light , 2012, Progress in Retinal and Eye Research.

[143]  Ben Chih,et al.  A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain , 2011, Nature Cell Biology.

[144]  Dorothy A. Thompson,et al.  RDH12 retinopathy: novel mutations and phenotypic description , 2011, Molecular vision.

[145]  B. Roska,et al.  Optogenetic therapy for retinitis pigmentosa , 2011, Gene Therapy.

[146]  J. Flannery,et al.  AAV mediated GDNF secretion from retinal glia slows down retinal degeneration in a rat model of retinitis pigmentosa. , 2011, Molecular therapy : the journal of the American Society of Gene Therapy.

[147]  A. Bird,et al.  SERIAL IMAGING AND STRUCTURE-FUNCTION CORRELATES OF HIGH-DENSITY RINGS OF FUNDUS AUTOFLUORESCENCE IN RETINITIS PIGMENTOSA , 2011, Retina.

[148]  A. J. Roman,et al.  Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model. , 2011, Investigative ophthalmology & visual science.

[149]  Ava K. Bittner,et al.  Characteristics and possible visual consequences of photopsias as vision measures are reduced in retinitis pigmentosa. , 2011, Investigative ophthalmology & visual science.

[150]  H. Dollfus,et al.  Retinal dystrophy in Bardet–Biedl syndrome and related syndromic ciliopathies , 2011, Progress in Retinal and Eye Research.

[151]  G. Holder,et al.  Unilateral retinitis pigmentosa occurring in an individual with a germline mutation in the RP1 gene. , 2011, Archives of ophthalmology.

[152]  Eberhart Zrenner,et al.  Transcorneal electrical stimulation for patients with retinitis pigmentosa: a prospective, randomized, sham-controlled exploratory study. , 2011, Investigative ophthalmology & visual science.

[153]  J. García-Verdugo,et al.  A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition , 2011, Nature Genetics.

[154]  S. Jacobson,et al.  BBS genotype–phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition , 2011, Human mutation.

[155]  Matthew J. Brauer,et al.  Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways , 2011, Cell.

[156]  Yun Lu,et al.  Intraflagellar transport delivers tubulin isotypes to sensory cilium middle and distal segments , 2011, Nature Cell Biology.

[157]  T. Matsuo,et al.  Optical coherence tomographic parameters as objective signs for visual acuity in patients with retinitis pigmentosa, future candidates for retinal prostheses , 2011, Journal of Artificial Organs.

[158]  A. Hagiwara,et al.  Macular abnormalities in patients with retinitis pigmentosa: prevalence on OCT examination and outcomes of vitreoretinal surgery , 2011, Acta ophthalmologica.

[159]  G. Fishman,et al.  THE USE OF CARBONIC ANHYDRASE INHIBITORS IN THE RETREATMENT OF CYSTIC MACULAR LESIONS IN RETINITIS PIGMENTOSA AND X-LINKED RETINOSCHISIS , 2011, Retina.

[160]  V. Sheffield,et al.  Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration , 2011, Human molecular genetics.

[161]  Alfred Stett,et al.  Subretinal electronic chips allow blind patients to read letters and combine them to words , 2010, Proceedings of the Royal Society B: Biological Sciences.

[162]  Dorothy A. Thompson,et al.  Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1 , 2010, British Journal of Ophthalmology.

[163]  M. Nachury,et al.  Trafficking to the ciliary membrane: how to get across the periciliary diffusion barrier? , 2010, Annual review of cell and developmental biology.

[164]  B. J. Klevering,et al.  Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype. , 2010, Ophthalmology.

[165]  I. Chowers,et al.  Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa. , 2010, American journal of human genetics.

[166]  C. Klaver,et al.  Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. , 2010, American journal of human genetics.

[167]  A. Wenzel,et al.  Bone spicule pigment formation in retinitis pigmentosa: insights from a mouse model , 2010, Graefe's Archive for Clinical and Experimental Ophthalmology.

[168]  H. Ohguro,et al.  Low levels of plasma endothelin-1 in patients with retinitis pigmentosa , 2010, Clinical ophthalmology.

[169]  S. Gygi,et al.  The Conserved Bardet-Biedl Syndrome Proteins Assemble a Coat that Traffics Membrane Proteins to Cilia , 2010, Cell.

[170]  E. Campos,et al.  ET-1 plasma levels and ocular blood flow in retinitis pigmentosa. , 2010, Canadian journal of physiology and pharmacology.

[171]  Kang Zhang,et al.  A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. , 2010, American journal of human genetics.

[172]  Danijela Maric,et al.  Molecular mechanisms of protein and lipid targeting to ciliary membranes , 2010, Journal of Cell Science.

[173]  S. Jacobson,et al.  Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. , 2009, American journal of human genetics.

[174]  Ava K. Bittner,et al.  A SURVEY OF PHOTOPSIAS IN SELF-REPORTED RETINITIS PIGMENTOSA: Location of Photopsias Is Related to Disease Severity , 2009, Retina.

[175]  M. Al-Ubaidi,et al.  Protein tyrosine-O-sulfation in the retina. , 2009, Experimental eye research.

[176]  S. Daiger,et al.  Essential and Synergistic Roles of RP1 and RP1L1 in Rod Photoreceptor Axoneme and Retinitis Pigmentosa , 2009, The Journal of Neuroscience.

[177]  B. Yoder,et al.  The Primary Cilium as a Complex Signaling Center , 2009, Current Biology.

[178]  R. T. Smith,et al.  STRUCTURAL ASSESSMENT OF HYPERAUTOFLUORESCENT RING IN PATIENTS WITH RETINITIS PIGMENTOSA , 2009, Retina.

[179]  D. Teller,et al.  Release of 11-cis-retinal from cellular retinaldehyde-binding protein by acidic lipids , 2009, Molecular vision.

[180]  T. L. McGee,et al.  A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. , 2009, Investigative ophthalmology & visual science.

[181]  D. Sharon,et al.  The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients. , 2009, Archives of ophthalmology.

[182]  Y Mitamura,et al.  Correlation between visual function and photoreceptor inner/outer segment junction in patients with retinitis pigmentosa , 2009, Eye.

[183]  M. Bach,et al.  ISCEV Standard for full-field clinical electroretinography (2008 update) , 2009, Documenta Ophthalmologica.

[184]  T. Wakabayashi,et al.  Correlation of fundus autofluorescence with photoreceptor morphology and functional changes in eyes with retinitis pigmentosa , 2009, Acta ophthalmologica.

[185]  A. Wright,et al.  Late-onset retinal macular degeneration: clinical insights into an inherited retinal degeneration , 2008, Postgraduate Medical Journal.

[186]  T. L. McGee,et al.  Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. , 2008, Investigative ophthalmology & visual science.

[187]  B. J. Klevering,et al.  Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. , 2008, American journal of human genetics.

[188]  W. Hauswirth,et al.  Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. , 2008, Human gene therapy.

[189]  Leo Goodstadt,et al.  EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa , 2008, Nature Genetics.

[190]  M. Sandberg,et al.  Visual acuity is related to parafoveal retinal thickness in patients with retinitis pigmentosa and macular cysts. , 2008, Investigative ophthalmology & visual science.

[191]  Eberhart Zrenner,et al.  Long-term follow-up of retinitis pigmentosa patients with multifocal electroretinography. , 2008, Investigative ophthalmology & visual science.

[192]  W. Huttner,et al.  Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. , 2008, The Journal of clinical investigation.

[193]  G. Fishman,et al.  The prevalence of cystoid macular oedema in retinitis pigmentosa patients determined by optical coherence tomography , 2008, British Journal of Ophthalmology.

[194]  Nick Tyler,et al.  Effect of gene therapy on visual function in Leber's congenital amaurosis. , 2008, The New England journal of medicine.

[195]  Kathleen A. Marshall,et al.  Safety and efficacy of gene transfer for Leber's congenital amaurosis. , 2008, The New England journal of medicine.

[196]  Nagahisa Yoshimura,et al.  Association between abnormal autofluorescence and photoreceptor disorganization in retinitis pigmentosa. , 2008, American journal of ophthalmology.

[197]  Peter Satir,et al.  Structure and function of mammalian cilia , 2008, Histochemistry and Cell Biology.

[198]  J. Hehir-Kwa,et al.  Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. , 2007, Investigative ophthalmology & visual science.

[199]  Amna Z. Shah,et al.  Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. , 2007, American journal of human genetics.

[200]  A. J. Roman,et al.  Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations. , 2007, Investigative ophthalmology & visual science.

[201]  Takashi Fujikado,et al.  Transcorneal electrical stimulation promotes the survival of photoreceptors and preserves retinal function in royal college of surgeons rats. , 2007, Investigative ophthalmology & visual science.

[202]  J. Hellemans,et al.  Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. , 2007, American journal of human genetics.

[203]  M. Leroux Taking Vesicular Transport to the Cilium , 2007, Cell.

[204]  V. Sheffield,et al.  A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis , 2007, Cell.

[205]  H. Kolb S-Cone Pathways , 2007 .

[206]  E. Zrenner,et al.  The phenotype of early-onset retinal degeneration in persons with RDH12 mutations. , 2007, Investigative Ophthalmology and Visual Science.

[207]  B. Rosner,et al.  Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. , 2007, Investigative ophthalmology & visual science.

[208]  Michael Simons,et al.  The extracellular matrix and blood vessel formation: not just a scaffold , 2007, Journal of cellular and molecular medicine.

[209]  R. Lapointe,et al.  Peripherin-2: an intracellular analogy to viral fusion proteins. , 2007, Biochemistry.

[210]  P. Satir,et al.  Sensory Cilia and Integration of Signal Transduction in Human Health and Disease , 2007, Traffic.

[211]  C. Hamel Cone rod dystrophies , 2007, Orphanet journal of rare diseases.

[212]  Wolfgang Drexler,et al.  Ultra-high resolution optical coherence tomography assessment of photoreceptors in retinitis pigmentosa and related diseases. , 2006, American journal of ophthalmology.

[213]  C. Zuker,et al.  Transforming the architecture of compound eyes , 2006, Nature.

[214]  Christopher Hamel Retinitis pigmentosa , 2006, Orphanet journal of rare diseases.

[215]  U. Tepass,et al.  The agrin/perlecan-related protein eyes shut is essential for epithelial lumen formation in the Drosophila retina. , 2006, Developmental cell.

[216]  Theodore G. Wensel,et al.  RGS Expression Rate-Limits Recovery of Rod Photoresponses , 2006, Neuron.

[217]  E. Pugh RGS Expression Level Precisely Regulates the Duration of Rod Photoresponses , 2006, Neuron.

[218]  J. Reiter,et al.  The Primary Cilium as the Cell's Antenna: Signaling at a Sensory Organelle , 2006, Science.

[219]  F. Delori,et al.  Near-infrared autofluorescence imaging of the fundus: visualization of ocular melanin. , 2006, Investigative ophthalmology & visual science.

[220]  Robert A Linsenmeier,et al.  Retinal oxygenation and oxygen metabolism in Abyssinian cats with a hereditary retinal degeneration. , 2006, Investigative ophthalmology & visual science.

[221]  B. Rosner,et al.  Disease Progression in Patients with X–Linked Retinitis Pigmentosa Due to RPGR Gene Mutations , 2006 .

[222]  R. Forte,et al.  Pericentral pigmentary retinopathy: long-term follow-up , 2006, Eye.

[223]  M. Sokolov,et al.  Arrestin Translocation Is Induced at a Critical Threshold of Visual Signaling and Is Superstoichiometric to Bleached Rhodopsin , 2006, The Journal of Neuroscience.

[224]  P. D. de Jong,et al.  Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa , 2005, Journal of Medical Genetics.

[225]  P. Herse,et al.  Retinitis pigmentosa: visual function and multidisciplinary management , 2005, Clinical & experimental optometry.

[226]  M. Sandberg,et al.  The association between visual acuity and central retinal thickness in retinitis pigmentosa. , 2005, Investigative ophthalmology & visual science.

[227]  S. Kawamura,et al.  Highly effective phosphorylation by G protein-coupled receptor kinase 7 of light-activated visual pigment in cones. , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[228]  A. Lambiase,et al.  Effect of exogenous administration of nerve growth factor in the retina of rats with inherited retinitis pigmentosa , 2005, Vision Research.

[229]  Dao-Yi Yu,et al.  Retinal degeneration and local oxygen metabolism. , 2005, Experimental eye research.

[230]  Ying Chen,et al.  RPE65 is the isomerohydrolase in the retinoid visual cycle. , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[231]  Craig Van Woerkom,et al.  Sector retinitis pigmentosa. , 2005, Optometry.

[232]  N. Tanimoto,et al.  Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies , 2005, Graefe's Archive for Clinical and Experimental Ophthalmology.

[233]  B. Lorenz,et al.  Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65. , 2004, Ophthalmology.

[234]  E. Pierce,et al.  The Retinitis Pigmentosa 1 Protein Is a Photoreceptor Microtubule-Associated Protein , 2004, The Journal of Neuroscience.

[235]  E. Pugh,et al.  RP1 is required for the correct stacking of outer segment discs. , 2003, Investigative ophthalmology & visual science.

[236]  B. Jones,et al.  Neural remodeling in retinal degeneration , 2003, Progress in Retinal and Eye Research.

[237]  A. Bird,et al.  Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene. , 2003, Archives of ophthalmology.

[238]  P. Campochiaro,et al.  Increased Expression of Brain-Derived Neurotrophic Factor Preserves Retinal Function and Slows Cell Death from Rhodopsin Mutation or Oxidative Damage , 2003, The Journal of Neuroscience.

[239]  F. Gonzalez-fernandez,et al.  BEYOND CARRIER PROTEINS Evolution of the visual cycle: the role of retinoid-binding proteins , 2002 .

[240]  R. Radu,et al.  Isomerization and Oxidation of Vitamin A in Cone-Dominant Retinas A Novel Pathway for Visual-Pigment Regeneration in Daylight , 2002, Neuron.

[241]  B. Rosner,et al.  Disease progression in patients with dominant retinitis pigmentosa and rhodopsin mutations. , 2002, Investigative ophthalmology & visual science.

[242]  M. Inatani,et al.  Proteoglycans in retina , 2002, Progress in Retinal and Eye Research.

[243]  J. Lupski,et al.  Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. , 2002, American journal of human genetics.

[244]  E. Pugh,et al.  Massive Light-Driven Translocation of Transducin between the Two Major Compartments of Rod Cells A Novel Mechanism of Light Adaptation , 2002, Neuron.

[245]  K. Novak-Lauš,et al.  Primary Tapetoretinal Dystrophies as the Cause of Blindness and Impaired Vision in the Republic Of Croatia , 2002 .

[246]  K. Novak-Lauš,et al.  Primarne tapetoretinske distrofije kao uzrok sljepoće i slabovidnosti u Republici Hrvatskoj , 2002 .

[247]  D. K. Roberts,et al.  RETROSPECTIVE LONGITUDINAL STUDY OF VISUAL ACUITY CHANGE IN PATIENTS WITH RETINITIS PIGMENTOSA , 2001, Retina.

[248]  S Kawamura,et al.  Low amplification and fast visual pigment phosphorylation as mechanisms characterizing cone photoresponses , 2001, Proceedings of the National Academy of Sciences of the United States of America.

[249]  T. Aleman,et al.  Long-term protection of retinal structure but not function using RAAV.CNTF in animal models of retinitis pigmentosa. , 2001, Molecular therapy : the journal of the American Society of Gene Therapy.

[250]  S. Tuft,et al.  Outcome of cataract surgery in patients with retinitis pigmentosa , 2001, The British journal of ophthalmology.

[251]  W. Young,et al.  SPACRCAN in the developing retina and pineal gland of the rat: Spatial and temporal pattern of gene expression and protein synthesis , 2001, The Journal of comparative neurology.

[252]  K Rohrschneider,et al.  Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. , 2001, American journal of human genetics.

[253]  J. Hurley,et al.  Visual Cycle Impairment in Cellular Retinaldehyde Binding Protein (CRALBP) Knockout Mice Results in Delayed Dark Adaptation , 2001, Neuron.

[254]  O. Sandgren,et al.  Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene. , 2001, Archives of ophthalmology.

[255]  M. Naash,et al.  Ambient hypoxia reverses retinal vascular attenuation in a transgenic mouse model of autosomal dominant retinitis pigmentosa. , 2000, Investigative ophthalmology & visual science.

[256]  K. Nakanishi,et al.  The Biosynthesis of A2E, a Fluorophore of Aging Retina, Involves the Formation of the Precursor, A2-PE, in the Photoreceptor Outer Segment Membrane* , 2000, The Journal of Biological Chemistry.

[257]  Donald C Hood,et al.  Assessing retinal function with the multifocal technique , 2000, Progress in Retinal and Eye Research.

[258]  Y. Tano,et al.  Retinal fascin: functional nature, subcellular distribution, and chromosomal localization. , 2000, Investigative ophthalmology & visual science.

[259]  L. Shaffer,et al.  Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes. , 2000, Genomics.

[260]  J. Nathans,et al.  Identification and Characterization of All-trans-retinol Dehydrogenase from Photoreceptor Outer Segments, the Visual Cycle Enzyme That Reduces All-trans-retinal to All-trans-retinol* , 2000, The Journal of Biological Chemistry.

[261]  W. Young,et al.  SPACRCAN, a Novel Human Interphotoreceptor Matrix Hyaluronan-binding Proteoglycan Synthesized by Photoreceptors and Pinealocytes* , 2000, The Journal of Biological Chemistry.

[262]  Christopher J. R. Loewen,et al.  Disulfide-mediated Oligomerization of Peripherin/Rds and Rom-1 in Photoreceptor Disk Membranes , 2000, The Journal of Biological Chemistry.

[263]  J. Hollyfield Hyaluronan and the functional organization of the interphotoreceptor matrix. , 1999, Investigative ophthalmology & visual science.

[264]  A. Bird,et al.  Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa , 1999, The British journal of ophthalmology.

[265]  T. Dryja,et al.  Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. , 1999, Investigative ophthalmology & visual science.

[266]  G. Holmgren,et al.  Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. , 1999, Investigative ophthalmology & visual science.

[267]  M. Gelb,et al.  Preferential Release of 11-cis-retinol from Retinal Pigment Epithelial Cells in the Presence of Cellular Retinaldehyde-binding Protein* , 1999, Journal of Biological Chemistry.

[268]  K. Palczewski,et al.  Molecular Characterization of a Third Member of the Guanylyl Cyclase-activating Protein Subfamily* , 1999, The Journal of Biological Chemistry.

[269]  L. Wachtmeister,et al.  Oscillatory potentials in the retina: what do they reveal , 1998, Progress in Retinal and Eye Research.

[270]  L. Lebioda,et al.  Molecular Characterization of a Novel Short-chain Dehydrogenase/Reductase That Reduces All-trans-retinal* , 1998, The Journal of Biological Chemistry.

[271]  H. Hayashi,et al.  Anterior capsule contraction and intraocular lens dislocation after implant surgery in eyes with retinitis pigmentosa. , 1998, Ophthalmology.

[272]  G. Fishman,et al.  Patterns of visual field progression in patients with retinitis pigmentosa. , 1998, Ophthalmology.

[273]  A. Milam,et al.  Histopathology of the human retina in retinitis pigmentosa. , 1998, Progress in retinal and eye research.

[274]  K Rohrschneider,et al.  Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. , 1998, Human molecular genetics.

[275]  M. Tetz,et al.  [Complicated cataracts in various forms of retinitis pigmentosa. Type and incidence]. , 1997, Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft.

[276]  G. Auffarth,et al.  Cataracta complicata bei verschiedenen Formen der Retinitis pigmentosa Art und Häufigkeit*,** , 1997, Der Ophthalmologe.

[277]  G. Fishman,et al.  Frequency of optic disc or parapapillary nerve fiber layer drusen in retinitis pigmentosa. , 1997, Ophthalmology.

[278]  J. Grunwald,et al.  Retinal hemodynamics in retinitis pigmentosa. , 1996, American journal of ophthalmology.

[279]  G. Fishman,et al.  Visual acuity impairment in patients with retinitis pigmentosa. , 1996, Ophthalmology.

[280]  R. Carr,et al.  Rates of change differ among measures of visual function in patients with retinitis pigmentosa. , 1996, Ophthalmology.

[281]  A. Milam,et al.  Histopathology of bone spicule pigmentation in retinitis pigmentosa. , 1995, Ophthalmology.

[282]  M F Marmor,et al.  The interphotoreceptor matrix mediates primate retinal adhesion. , 1995, Archives of ophthalmology.

[283]  C K Dorey,et al.  In vivo fluorescence of the ocular fundus exhibits retinal pigment epithelium lipofuscin characteristics. , 1995, Investigative ophthalmology & visual science.

[284]  F. Riemslag,et al.  Autosomal recessive retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium. , 1994, American journal of ophthalmology.

[285]  K. Palczewski Structure and functions of arrestins , 1994, Protein science : a publication of the Protein Society.

[286]  M. Marmor,et al.  Retinal adhesiveness in the monkey. , 1994, Investigative ophthalmology & visual science.

[287]  R. Cotton,et al.  A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease. , 1993, Archives of ophthalmology.

[288]  K. Kozminski,et al.  A motility in the eukaryotic flagellum unrelated to flagellar beating. , 1993, Proceedings of the National Academy of Sciences of the United States of America.

[289]  J. Keunen,et al.  Colour vision in retinitis pigmentosa , 1993, International Ophthalmology.

[290]  E. Berson Retinitis pigmentosa. The Friedenwald Lecture. , 1993, Investigative ophthalmology & visual science.

[291]  M. Sandberg,et al.  A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens , 1993, Nature Genetics.

[292]  J. L. Stone,et al.  Morphometric analysis of macular photoreceptors and ganglion cells in retinas with retinitis pigmentosa. , 1992, Archives of ophthalmology.

[293]  G. Hageman,et al.  Xyloside-induced disruption of interphotoreceptor matrix proteoglycans results in retinal detachment. , 1992, Investigative ophthalmology & visual science.

[294]  M. Lavail,et al.  Photoreceptor degeneration in inherited retinal dystrophy delayed by basic fibroblast growth factor , 1990, Nature.

[295]  David W. Yandell,et al.  A point mutation of the rhodopsin gene in one form of retinitis pigmentosa , 1990, Nature.

[296]  F. Cañada,et al.  Inhibitors of retinyl ester formation also prevent the biosynthesis of 11-cis-retinol. , 1990, Biochemistry.

[297]  F. Cañada,et al.  Membranes as the energy source in the endergonic transformation of vitamin A to 11-cis-retinol. , 1989, Science.

[298]  J. C. Saari,et al.  Lecithin:retinol acyltransferase in retinal pigment epithelial microsomes. , 1989, The Journal of biological chemistry.

[299]  L. Stryer,et al.  Highly cooperative feedback control of retinal rod guanylate cyclase by calcium ions , 1988, Nature.

[300]  J. Heckenlively,et al.  Clinical findings and common symptoms in retinitis pigmentosa. , 1988, American journal of ophthalmology.

[301]  C. H. Ide,et al.  Coats'-type retinitis pigmentosa. , 1988, Survey of ophthalmology.

[302]  R. Fetter,et al.  Morphological components associated with frog cone outer segment disc margins. , 1987, Investigative ophthalmology & visual science.

[303]  B. Rosner,et al.  Natural course of retinitis pigmentosa over a three-year interval. , 1985, American journal of ophthalmology.

[304]  G. Fishman,et al.  Prolonged rod dark adaptation in retinitis pigmentosa. , 1984, The British journal of ophthalmology.

[305]  E. Berson,et al.  Prevalence of retinitis pigmentosa in Maine. , 1984, American journal of ophthalmology.

[306]  A. Cohen Some cytological and initial biochemical observations on photoreceptors in retinas of rds mice. , 1983, Investigative ophthalmology & visual science.

[307]  J. Heckenlively,et al.  The frequency of posterior subcapsular cataract in the hereditary retinal degenerations. , 1982, American journal of ophthalmology.

[308]  E. Berson Retinitis pigmentosa and allied diseases: applications of electroretinographic testing , 1981, International Ophthalmology.

[309]  R. Szamier Ultrastructure of the preretinal membrane in retinitis pigmentosa. , 1981, Investigative ophthalmology & visual science.

[310]  R. Massof,et al.  Bilateral symmetry of vision disorders in typical retinitis pigmentosa. , 1979, The British journal of ophthalmology.

[311]  J. Besharse,et al.  Turnover of rod photoreceptor outer segments. II. Membrane addition and loss in relationship to light , 1977, The Journal of cell biology.

[312]  F. Abraham,et al.  Sector retinitis pigmentosa: a fluorescein angiographic study. , 1976, Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde.

[313]  T. Flood,et al.  Retinitis pigmentosa without pigment. , 1976, American journal of ophthalmology.

[314]  F. Abraham Sector retinitis pigmentosa , 1975, Documenta Ophthalmologica.

[315]  G. Wald The Molecular Basis of Visual Excitation , 1968, Nature.

[316]  R. W. Young,et al.  Passage of newly formed protein through the connecting cilium of retina rods in the frog. , 1968, Journal of ultrastructure research.

[317]  R. W. Young THE RENEWAL OF PHOTORECEPTOR CELL OUTER SEGMENTS , 1967, The Journal of cell biology.

[318]  A. Cohen The fine structure of the extrafoveal receptors of the Rhesus monkey. , 1961, Experimental eye research.

[319]  F. Sjöstrand The ultrastructure of the outer segments of rods and cones of the eye as revealed by the electron microscope. , 1953 .

[320]  Nazanin Ebrahimiadib,et al.  Degenerative Retinal Disorders , 2020 .

[321]  A. Moshiri,et al.  Inherited Retinal Diseases , 2018 .

[322]  Eberhart Zrenner,et al.  Transcorneal Electrical Stimulation for Patients With Retinitis Pigmentosa: A Prospective, Randomized, Sham-Controlled Follow-up Study Over 1 Year. , 2017, Investigative ophthalmology & visual science.

[323]  F. Baas,et al.  LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability , 2017, Retina.

[324]  Adam P. DeLuca,et al.  Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. , 2016, Human molecular genetics.

[325]  S. Tsang,et al.  Personalized Medicine: Cell and Gene Therapy Based on Patient-Specific iPSC-Derived Retinal Pigment Epithelium Cells. , 2016, Advances in experimental medicine and biology.

[326]  K. Verhey,et al.  Gated entry into the ciliary compartment , 2015, Cellular and Molecular Life Sciences.

[327]  Y. Murakami,et al.  Clinical evidence of sustained chronic inflammatory reaction in retinitis pigmentosa. , 2013, Ophthalmology.

[328]  R. Wilke,et al.  Correlation between macular morphology and sensitivity in patients with retinitis pigmentosa and hyperautofluorescent ring. , 2012, Investigative ophthalmology & visual science.

[329]  B. J. Klevering,et al.  BBS 1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome , 2012 .

[330]  Donald C Hood,et al.  The transition zone between healthy and diseased retina in patients with retinitis pigmentosa. , 2011, Investigative ophthalmology & visual science.

[331]  R. Klein,et al.  Measuring Refraction in Adults in Epidemiological Studies I N Epidemiological Studies Of , 2022 .

[332]  J. Vander Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis , 2009 .

[333]  V. Gurevich,et al.  Arrestins as multi-functional signaling adaptors. , 2008, Handbook of experimental pharmacology.

[334]  R. Roepman,et al.  Protein networks and complexes in photoreceptor cilia. , 2007, Sub-cellular biochemistry.

[335]  F. C. Donders Beiträge zur pathologischen Anatomie des Auges , 2007, Archiv für Ophthalmologie.

[336]  M. Gorin,et al.  A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy. , 2006, American journal of ophthalmology.

[337]  S. Hanein,et al.  Leber congenital amaurosis: survey of the genetic heterogeneity, refinement of the clinical definition and phenotype-genotype correlations as a strategy for molecular diagnosis. Clinical and molecular survey in LCA. , 2006, Advances in experimental medicine and biology.

[338]  J. Scholey Intraflagellar transport. , 2003, Annual review of cell and developmental biology.

[339]  J. Rosenbaum,et al.  Intraflagellar transport , 2002, Nature Reviews Molecular Cell Biology.

[340]  A. Bird,et al.  Distribution of pigment epithelium autofluorescence in retinal disease state recorded in vivo and its change over time , 1999, Graefe's Archive for Clinical and Experimental Ophthalmology.

[341]  M. Baiget,et al.  Analysis of the IRBP gene as a cause of RP in 45 ARRP Spanish families. Autosomal recessive retinitis pigmentosa. Interstitial retinol binding protein. Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa. , 1998, Ophthalmic genetics.

[342]  A. Munnich,et al.  Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. , 1996, American journal of ophthalmology.

[343]  Eduardo Fernández,et al.  Webvision: The Organization of the Retina and Visual System , 1995 .

[344]  M. Marmor,et al.  RETINAL ADHESIVENESS IN SURGICALLY ENUCLEATED HUMAN EYES , 1994, Retina.

[345]  M. Mäntyjärvi,et al.  Clinical symptoms at different ages in autosomal dominant retinitis pigmentosa. A family study in three generations. , 1994, Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde.

[346]  H. Kölmel Visual illusions and hallucinations. , 1993, Bailliere's clinical neurology.

[347]  D D Clowes,et al.  A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa. , 1993, Archives of ophthalmology.

[348]  S. Daiger,et al.  Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin. , 1991, Archives of ophthalmology.

[349]  G. Hageman,et al.  Chapter 9 Structure, composition and function of the retinal interphotoreceptor matrix , 1991 .

[350]  R. A. Pagon,et al.  Retinitis pigmentosa. , 1988, Survey of ophthalmology.

[351]  L. Stryer,et al.  Cyclic GMP cascade of vision. , 1986, Annual review of neuroscience.

[352]  J. Boughman,et al.  Usher syndrome: definition and estimate of prevalence from two high-risk populations. , 1983, Journal of chronic diseases.

[353]  R. Pruett,et al.  Retinitis pigmentosa: clinical observations and correlations. , 1983, Transactions of the American Ophthalmological Society.

[354]  Club Jules Gonin,et al.  Graefe's archive for clinical and experimental ophthalmology , 1982 .

[355]  Joel Pokorny,et al.  Congenital and acquired color vision defects , 1979 .

[356]  K. A. Hellner,et al.  Familiary bilateral segmental retinopathia pigmentosa. , 1973, Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde.

[357]  G. Bietti Su alcune forme atipiche o rare di degenerazione retinica (degenerazione tappetoretiniche e quadri morbosi similari) , 1937 .

[358]  J. Schön,et al.  Handbuch der pathologischen Anatomie des menschlichen Auges , 1828 .