A. Iannaccone

发表

Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations.

L. Flagiello, E. Vingolo, M. Pannarale, 1996, Ophthalmology.

Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps

J. Sahel, D. Zack, J. Flannery, 2018, Translational vision science & technology.

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

S. Jacobson, G. Fishman, Rui Chen, 2013, Journal of Medical Genetics.

Using Genetic Variation and Environmental Risk Factor Data to Identify Individuals at High Risk for Age-Related Macular Degeneration

Margaret A. Pericak-Vance, Jonathan L. Haines, Anne B. Newman, 2011, PloS one.

Comparison of the molecular properties of retinitis pigmentosa P23H and N15S amino acid replacements in rhodopsin

Kalyan C. Tirupula, J. Klein-Seetharaman, K. Gerwert, 2019, PloS one.

Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration.

P. Sieving, D. Raz-Prag, M. A. Mandal, 2006, Investigative ophthalmology & visual science.

A new era in medical therapy for retinal degenerative disease?

M. Zarbin, A. Iannaccone, 2014, The Lancet.

Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation

A. Swaroop, C. Morton, D. Breuer, 2003, Journal of medical genetics.

Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.

R. T. Smith, C. Klaver, S. Tsang, 2012, Investigative ophthalmology & visual science.

A pilot investigation of audiovisual processing and multisensory integration in patients with inherited retinal dystrophies

Mark H. Myers, G. Bidelman, A. Iannaccone, 2017, BMC Ophthalmology.

Perspective Inherited Retinal Degenerations : Current Landscape and Knowledge Gaps

J. Sahel, D. Zack, J. Flannery, 2018 .

Human retinal hemodynamics following administration of 5-isosorbide mononitrate

J. Grunwald, A. Iannaccone, J. Dupont, 2000 .

Effect of isosorbide mononitrate on the human optic nerve and choroidal circulations

J. Grunwald, A. Iannaccone, J. Dupont, 1999, The British journal of ophthalmology.

Advancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano Symposium.

W. Hauswirth, J. Flannery, J. Heckenlively, 2015, Investigative ophthalmology & visual science.

Characteristics of Visual Electrophysiology in Retinal Toxicities

A. Senatore, D. Creel, A. Iannaccone, 2019, Handbook of Clinical Electrophysiology of Vision.

Auditory and olfactory findings in patients with USH2A‐related retinal degeneration—Findings at baseline from the rate of progression in USH2A‐related retinal degeneration natural history study (RUSH2A)

Mark H. Myers, Todd A. Durham, R. Doty, 2021, American journal of medical genetics. Part A.

The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline

Christina Y Weng, Christina Y. Weng, Todd A. Durham, 2020, Translational vision science & technology.

Genotype–phenotype correlations and differential diagnosis in autosomal dominant macular disease

A. Iannaccone, 2001, Documenta Ophthalmologica.

Choosing Outcome Measures and Assessing Efficacy of Therapeutic Interventions in Inherited Retinal Diseases: The Importance of Natural History Studies

A. Iannaccone, O. Alekseev, 2021, International ophthalmology clinics.

Modulation of Wolframin Expression in Human Placenta during Pregnancy: Comparison among Physiological and Pathological States

A. Baldi, A. De Luca, L. Cobellis, 2014, BioMed research international.

Bilateral paraneoplastic optic neuropathy and unilateral retinal compromise in association with prostate cancer: a differential diagnostic challenge in a patient with unexplained visual loss

G. Adamus, A. Iannaccone, G. Carboni, 2012, Documenta Ophthalmologica.

Pigment Epithelium-Derived Factor Supports Normal Development of Photoreceptor Neurons and Opsin Expression after Retinal Pigment Epithelium Removal

A. Iannaccone, J. Tombran-Tink, M. Jablonski, 2000, The Journal of Neuroscience.

High‐resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X‐linked blue cone monochromacy

U. Surti, A. Rajkovic, A. Iannaccone, 2016, Clinical genetics.

The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa.

M. Pannarale, A. Iannaccone, G. del Porto, 1997, Ophthalmic genetics.

Electroretinographic alterations in the Laurence-Moon-Bardet-Biedl phenotype.

E. Vingolo, M. Pannarale, A. Iannaccone, 2009 .

Localization and distribution of wolframin in human tissues.

A. Baldi, A. De Luca, L. Manente, 2012, Frontiers in bioscience.

Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome

Cecinio C. Ronquillo, P. Bernstein, B. Lam, 2021, Investigative ophthalmology & visual science.

Low-noise electroretinogram recording techniques in retinitis pigmentosa

E. Vingolo, A. Iannaccone, E. Ríspoli, 2005, Documenta Ophthalmologica.

Contribution of Müller cells toward the regulation of photoreceptor outer segment assembly.

A. Iannaccone, M. Jablonski, Xiaofei F Wang, 2004, Neuron glia biology.

Clinical evidence of decreased olfaction in Bardet–Biedl syndrome caused by a deletion in the BBS4 Gene

V. Sheffield, A. Baldi, A. Iannaccone, 2005, American journal of medical genetics. Part A.

Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene

J. Ward, A. Iannaccone, N. Kerr, 2016, Ophthalmic genetics.

Diversity in autoimmunity against retinal, neuronal, and axonal antigens in acquired neuro-retinopathy

G. Adamus, A. Iannaccone, J. Schiffman, 2011, Journal of ophthalmic inflammation and infection.

Identification of two novel mutations in families with X-linked ocular albinism.

M. Neitz, A. Iannaccone, D. Sidjanin, 2007, Molecular vision.

Clinical heterogeneity of dominant optic atrophy: the contribution of visual function investigations to diagnosis

E. Vingolo, M. Pannarale, A. Iannaccone, 1994, Graefe's Archive for Clinical and Experimental Ophthalmology.

Murine Retinal Citrullination Declines With Age and is Mainly Dependent on Peptidyl Arginine Deiminase 4 (PAD4)

M. Radic, A. Iannaccone, F. Giorgianni, 2018, Investigative ophthalmology & visual science.

Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations.

G. Fishman, H. Ezzeldin, J. Sunness, 2002, Archives of ophthalmology.

Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene

N. Smaoui, A. Iannaccone, N. Kerr, 2015, Documenta Ophthalmologica.

Pigment epithelium‐derived factor supports normal Müller cell development and glutamine synthetase expression after removal of the retinal pigment epithelium

A. Iannaccone, J. Tombran-Tink, M. Jablonski, 2001, Glia.

Visual evoked potentials in children with neurofibromatosis type 1

E. Pivnick, June S. Taylor, A. Iannaccone, 2002, Documenta Ophthalmologica.

Blue Cone Monochromacy: Visual Function and Efficacy Outcome Measures for Clinical Trials

A. V. Cideciyan, A. J. Roman, A. Cideciyan, 2015, PloS one.

Degenerative Night-Blinding Disorders and Cone and Cone–Rod Dystrophies

D. Creel, A. Iannaccone, Minzhong Yu, 2019, Handbook of Clinical Electrophysiology of Vision.

Clinical and functional findings in choroideremia due to complete deletion of the CHM gene.

I. MacDonald, M. Mura, A. Iannaccone, 2007, A M A Archives of Ophthalmology.

Reliability assessment of a rod photoreceptor outer segment grading system.

S. Kritchevsky, A. Iannaccone, M. Jablonski, 2001, Experimental eye research.

Interspecies Correlations between Human and Mouse NR2E3-Associated Recessive Disease

N. Haider, A. Iannaccone, M. Kedrov, 2021, Journal of clinical medicine.

Functionally rodless mice: transgenic models for the investigation of cone function in retinal disease and therapy

E. Pugh, B. Falsini, A. Iannaccone, 2002, Vision Research.

Autosomal dominant simple microphthalmos.

E. Vingolo, M. Pannarale, A. Iannaccone, 1994, Journal of medical genetics.

The Genetics of Glaucoma, Cataracts, and Corneal Dystrophies

A. Iannaccone, N. Kerr, W. R. Morris, 2004 .

Congenital Non-Degenerative Retinal Diseases

A. Senatore, D. Creel, A. Racioppi, 2019, Handbook of Clinical Electrophysiology of Vision.

Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy

M. Gorin, Xinjing Wang, E. Traboulsi, 2017, European Journal of Human Genetics.

Other Inherited Retinal Diseases

Lejla Vajzovic, A. Iannaccone, Mohsin H. Ali, 2020, Handbook of Pediatric Retinal OCT and the Eye-Brain Connection.

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.

William J Feuer, Edwin M Stone, Alexander Sumaroka, 2012, Archives of ophthalmology.

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.

E. Bertini, V. Tiranti, R. Carrozzo, 2019, The Journal of clinical investigation.

Usher syndrome: correlation between visual field size and maximal ERG response b-wave amplitude.

A. Iannaccone, 2003, Advances in experimental medicine and biology.

Circulating Autoantibodies in Age-Related Macular Degeneration Recognize Human Macular Tissue Antigens Implicated in Autophagy, Immunomodulation, and Protection from Oxidative Stress and Apoptosis

S. Kritchevsky, S. Satterfield, T. Harris, 2015, PloS one.

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4

Alfonso Baldi, Val C. Sheffield, Edwin M. Stone, 2001, Nature Genetics.

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

P. Sieving, J. Sahel, A. Cideciyan, 2020, Translational vision science & technology.

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).

V. Sheffield, S. Jacobson, A. Fulton, 2003, American journal of human genetics.

Retinal pigment epithelium and microglia express the CD5 antigen‐like protein, a novel autoantigen in age‐related macular degeneration

M. Radic, David D. New, A. Iannaccone, 2017, Experimental eye research.

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

V. Sheffield, S. Jacobson, A. Fulton, 2001, Human molecular genetics.

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

P. Sieving, S. Jacobson, A. Swaroop, 2002, American journal of human genetics.

Comprehensive identification of mRNA isoforms reveals the diversity of neural cell-surface molecules with roles in retinal development and disease

J. N. Kay, Brian S. Clark, V. Arshavsky, 2020, Nature Communications.

Handbook of Clinical Electrophysiology of Vision

D. Creel, A. Iannaccone, Minzhong Yu, 2019 .

Phenotypic expression of Bardet–Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene

V. Sheffield, E. Stone, D. Nishimura, 2012, Vision Research.

UvA-DARE ( Digital Academic Repository ) Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus ( BBS 1 )

V. Sheffield, S. Jacobson, A. Fulton, 2003 .

Comprehensive identification of mRNA isoforms reveals the diversity of neural cell-surface molecules with roles in retinal development and disease

J. N. Kay, Brian S. Clark, V. Arshavsky, 2020, Nature Communications.

Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.

R G Weleber, A. Cideciyan, S. Jacobson, 2000, Investigative ophthalmology & visual science.

Disease Expression of RP 1 Mutations Causing Autosomal Dominant Retinitis Pigmentosa

A. Cideciyan, S. Jacobson, G. Fishman, 2000 .

Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping

A. Iannaccone, J. Chiang, Priya R. Gupta, 2022, Molecular vision.

Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene

T. Dryja, A. Iannaccone, S. Tedesco, 2007, Documenta Ophthalmologica.

Characteristics of Visual Electrophysiology in Inflammatory Disorders

A. Senatore, D. Creel, A. Iannaccone, 2019, Handbook of Clinical Electrophysiology of Vision.

Human CHN1 Mutations Hyperactivate α2-Chimaerin and Cause Duane's Retraction Syndrome

Alfonso Baldi, Michelle Cheung, Mustafa Sahin, 2008, Science.

An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation

B. Yashar, R. Molday, M. Mura, 2006, Vision Research.

Retinal dysfunction and nerve fiber layer loss in pediatric patients on vigabatrin: an ERG and SD-OCT study

A. Iannaccone, N. Kerr, J. Barnett, 2015 .

Intravitreal Delivery of rAAV2tYF-CB-hRS1 Vector for Gene Augmentation Therapy in X-linked Retinoschisis - 1 Year Clinical Results.

Christina Y. Weng, D. Birch, A. Moore, 2022, Ophthalmology. Retina.

Downregulation of a unique photoreceptor protein correlates with improper outer segment assembly

D. Desiderio, A. Iannaccone, M. Jablonski, 2002, Journal of neuroscience research.

Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications.

E. Stone, A. Iannaccone, J. Calzada, 2011, Archives of ophthalmology.

Diagnostic sensitivity and specificity of dark adaptometry for detection of age-related macular degeneration.

Ivana K. Kim, G. R. Jackson, I. Scott, 2014, Investigative ophthalmology & visual science.

Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide.

E. Stone, A. Iannaccone, M. Eyestone, 2009, American journal of ophthalmology.

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.

P. Sieving, S. Schwartz, S. Jacobson, 2012, Investigative ophthalmology & visual science.

Progression of Geographic Atrophy in Age-related Macular Degeneration: AREDS2 Report Number 16.

Jeffrey Heier, Jason Hsu, Tracey Caldwell, 2018, Ophthalmology.

Autoimmune biomarkers in age-related macular degeneration: a possible role player in disease development and progression.

M. Radic, D. Desiderio, A. Iannaccone, 2012, Advances in experimental medicine and biology.

Predicting the pathogenicity of RPE65 mutations

S. Jacobson, G. Fishman, A. Philp, 2009, Human mutation.

Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects

J. Klein-Seetharaman, S. Bhattacharya, M. Ganapathiraju, 2006, Vision Research.

Cataractogenesis In Retinitis Pigmentosa

A. Bellelli, L. Pannarale, E. Vingolo, 1995 .

The double-edged sword of inflammation in inherited retinal degenerations: Clinical and preclinical evidence for mechanistically and prognostically impactful but treatable complications

A. Iannaccone, Kubra Sarici, Aanal Vyas, 2023, Frontiers in Cell and Developmental Biology.

Macular Pigment Optical Density and Measures of Macular Function: Test-Retest Variability, Cross-Sectional Correlations, and Findings from the Zeaxanthin Pilot Study of Response to Supplementation (ZEASTRESS-Pilot)

A. Iannaccone, B. Jennings, M. G. Mutolo, 2016, Foods.

The association of cataract with leukocyte telomere length in older adults: defining a new marker of aging.

M. Nalls, S. Cummings, S. Kritchevsky, 2011, The journals of gerontology. Series A, Biological sciences and medical sciences.

Macular pigment optical density in the elderly: findings in a large biracial Midsouth population sample.

S. Kritchevsky, S. Satterfield, Elizabeth J Johnson, 2007, Investigative ophthalmology & visual science.

A. Reiner, A. Iannaccone, M. Jablonski, 2007, Investigative ophthalmology & visual science.

Plasma endothelin-1 concentrations in patients with retinal vein occlusions

E. Vingolo, M. Pannarale, A. Iannaccone, 1998, The British journal of ophthalmology.

Characteristics of Visual Electrophysiology in Albinism

D. Creel, A. Iannaccone, Minzhong Yu, 2019, Handbook of Clinical Electrophysiology of Vision.

Increasing evidence for syndromic phenotypes associated with RPGR mutations.

A. Swaroop, C. Morton, A. Baldi, 2004, American journal of ophthalmology-glaucoma.

Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene.

A. Swaroop, M. Othman, K. Branham, 2008, Advances in experimental medicine and biology.

Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation with Other Measures of Disease Severity.

Todd A. Durham, J. Sahel, F. Ferris, 2020, American journal of ophthalmology.

Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study

Todd A. Durham, J. Duncan, C. Brewer, 2022, Human mutation.

Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.

P. Sieving, S. Jacobson, A. Swaroop, 2003, Molecular vision.

Autosomal-dominant Retinitis Pigrnentosa Associated with an Arg-135-Trp Point Mutation of the Rhodopsin Gene

L. Flagiello, E. Vingolo, M. Pannarale, 1996 .

Autosomal ... dominant Retinitis Pigmentosa Associated with an

L. Flagiello, E. Vingolo, B. Grammatico, 1996 .

Correlates of serum lutein + zeaxanthin: findings from the Third National Health and Nutrition Examination Survey.

S. Kritchevsky, A. Millen, A. Iannaccone, 2004, The Journal of nutrition.

Targeted disruption of Müller cell metabolism induces photoreceptor dysmorphogenesis

A. Iannaccone, M. Jablonski, 2000, Glia.

Nutritional Epidemiology Correlates of Serum Lutein Zeaxanthin : Findings from the Third National Health and Nutrition Examination Survey 1

S. Kritchevsky, A. Millen, A. Iannaccone, 2004 .

Gene-agnostic approaches to treating inherited retinal degenerations

A. Iannaccone, Lindsey A. Chew, 2023, Frontiers in Cell and Developmental Biology.

Permissive glycan support of photoreceptor outer segment assembly occurs via a non-metabolic mechanism.

A. Iannaccone, M. Jablonski, Xiaofei F Wang, 2003, Molecular vision.

Kinetics of visual field loss in Usher syndrome Type II.

G. Somes, W. Kimberling, S. Kritchevsky, 2004, Investigative ophthalmology & visual science.

Macular pigment optical density is related to cognitive function in older people.

S. Kritchevsky, C. Rosano, S. Satterfield, 2014, Age and ageing.

The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene

Todd A. Durham, J. Duncan, K. Stingl, 2022, Investigative ophthalmology & visual science.

Ophthalmic manifestations of ROSAH Syndrome, an inherited NF-κB mediated autoinflammatory disease with retinal dystrophy.

D. Kastner, L. Sobrin, W. Zein, 2022, Ophthalmology.

Lactose supports Muller cell protein expression patterns in the absence of the retinal pigment epithelium.

A. Iannaccone, M. Jablonski, 2001, Molecular vision.

Natural History of Drusenoid Pigment Epithelial Detachment Associated with Age-Related Macular Degeneration: Age-Related Eye Disease Study 2 Report No. 17.

Stephen F. Hobbs, Christina Y. Weng, Robert C. Wang, 2019, Ophthalmology.

The relation between serum xanthophylls, fatty acids, macular pigment and cognitive function in the Health ABC Study

S. Kritchevsky, Elizabeth J Johnson, A. Iannaccone, 2008 .

Familial unilateral Brown syndrome

A. Baldi, E. Engle, A. Iannaccone, 2002, Ophthalmic genetics.

Image Contributors

S. Fekrat, M. Materin, L. Enyedi, 2020, Handbook of Pediatric Retinal OCT and the Eye-Brain Connection.

Other Forms of Retinitis Pigmentosa—Usher Syndrome, Leber Congenital Amaurosis, and Bardet-Biedl Syndrome

Lejla Vajzovic, A. Iannaccone, Mohsin H. Ali, 2020 .

Circulating endothelin-1 in non-insulin-dependent diabetic patients with retinopathy.

M. Pannarale, A. Iannaccone, C. Letizia, 1997, Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme.

Natural History of Drusenoid Pigment Epithelial Detachment Associated with Age-Related Macular Degeneration: Age-Related Eye Disease Study 2 Report No. 17.

Stephen F. Hobbs, Sharon D. Solomon, Arthur D. Fu, 2019, Ophthalmology.

Correlation between Goldmann perimetry and maximal electroretinogram response in retinitis pigmentosa

P. Onori, E. Vingolo, M. Pannarale, 2005, Documenta Ophthalmologica.

Clinical and functional findings in choroideremia due to complete deletion of the CHM gene.

I. MacDonald, M. Mura, A. Iannaccone, 2007, Archives of ophthalmology.

Progression of Geographic Atrophy in Age-related Macular Degeneration: AREDS2 Report Number 16.

Stephen F. Hobbs, Sharon D. Solomon, Arthur D. Fu, 2018, Ophthalmology.

Clinical Features of Autosomal Dominant Retinitis Pigmentosa Associated with the GLY-188-ARG Mutation of the Rhodopsin Gene

E. Vingolo, M. Pannarale, A. Iannaccone, 1993 .

Microbiome and inherited retinal degenerations.

A. Iannaccone, K. A. Douglas, V. P. Douglas, 2023, The American journal of pathology.

Increased Protein Citrullination as a Trigger for Resident Immune System Activation, Intraretinal Inflammation, and Promotion of Anti-retinal Autoimmunity: Intersecting Paths in Retinal Degenerations of Potential Therapeutic Relevance.

M. Radic, A. Iannaccone, 2019, Advances in experimental medicine and biology.

Macular Dystrophies

D. Creel, A. Racioppi, A. Iannaccone, 2019, Handbook of Clinical Electrophysiology of Vision.

Estimation of macular pigment optical density in the elderly: Test–retest variability and effect of optical blur in pseudophakic subjects

S. Kritchevsky, S. Satterfield, K. Johnson, 2007, Vision Research.