A. Moore

G. Holder, C. Hogg, M. Reddy, 2014, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC)

L. da Cruz, P. Coffey, A. Webster, 2016, Scientific Reports.

A clinical and molecular characterisation of CRB1-associated maculopathy

G. Holder, O. Mahroo, K. Carss, 2018, European Journal of Human Genetics.

Genetic background and light-dependent progression of photoreceptor cell degeneration in Prominin-1 knockout mice.

G. A. Limb, A. Moore, T. Kondo, 2015, Investigative ophthalmology & visual science.

Genetic enhancement of cognition in a kindred with cone–rod dystrophy due to RIMS1 mutation

I. Deary, A. Need, D. Goldstein, 2007, Journal of Medical Genetics.

Clustering and frequency of mutations in the retinal guanylate cyclase ( GUCY2D ) gene in patients with dominant cone-rod dystrophies

D. Hunt, A. Bird, S. Bhattacharya, 2001 .

Intraoperative fluorescein angiography-guided treatment in children with early Coats' disease.

A. Moore, M. Suzani, A. Moore, 2015, Ophthalmology.

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNAâ€“protein interaction

E. Tobias, P. Calvas, J. Marsh, 2019 .

Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts

Nikolas Pontikos, M. Michaelides, A. Moore, 2021, Eye.

A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family

V. Plagnol, Nikolas Pontikos, M. Michaelides, 2017, Eye.

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.

T. Rosenberg, S. Bhattacharya, H. Eiberg, 2002, Investigative ophthalmology & visual science.

Choroidal neovascularisation in children

A. Moore, S. Sivaprasad, A. Moore, 2008, British Journal of Ophthalmology.

Characterization of Retinal Structure in ATF6-Associated Achromatopsia

Christopher S. Langlo, Emily J Patterson, S. Tsang, 2019, Investigative ophthalmology & visual science.

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.

W. Huttner, D. Hunt, C. Lillo, 2008, The Journal of clinical investigation.

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.

W. Huttner, D. Hunt, C. Lillo, 2008, The Journal of clinical investigation.

Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy

I. Pavord, S. Sisodiya, D. Hunt, 2011, European Journal of Human Genetics.

campath-1 G : a clinicopathological study . receiving bone marrow allografts and Ischaemic retinopathy occurring in patients

A. Webster, J. Anderson, E. M. Richards, 2022 .

THE FUNDUS PHENOTYPE ASSOCIATED WITH THE p.Ala243Val BEST1 MUTATION

M. Michaelides, A. Moore, K. Khan, 2016, Retina.

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)

A. Webster, A. Moore, S. Ramsden, 2012, European Journal of Human Genetics.

NORMAL ELECTROOCULOGRAPHY IN BEST DISEASE AND AUTOSOMAL RECESSIVE BESTROPHINOPATHY

G. Holder, M. Michaelides, A. Webster, 2018, Retina.

A new locus for dominant "zonular pulverulent" cataract, on chromosome 13.

S. Bhattacharya, A. Moore, D. Mackay, 1997, American journal of human genetics.

Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype

V. Plagnol, A. Moore, S. Hull, 2017, Human Genome Variation.

frequency of large gene deletions demonstrating broader phenotype and high SOX2 anophthalmia syndrome: twelve new cases

A. Wyatt, J. Crolla, A. Fielder, 2007 .

Results of early surgery for infantile esotropia in normal and neurologically impaired infants

A. Moore, S. Charles, S. J. Charles, 1992, Eye.

A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q

S. Bhattacharya, A. Moore, A. Ionides, 2011, European Journal of Human Genetics.

Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.

Monkol Lek, Daniel G MacArthur, Vincent Plagnol, 2014, American journal of human genetics.

Ocular malformations and the fruits of develpmental genetics

A. Webster, A. Moore, A. Moore, 1994, Eye.

RP1 protein truncating mutations predominate at the RP1 adRP locus.

A. Bird, S. Bhattacharya, E. Vithana, 2000, Investigative ophthalmology & visual science.

Genetic background and light dependent progression of photoreceptor cell 6 degeneration in Prominin 1 knockout mice 7 8 9 10

G. A. Limb, A. Moore, T. Kondo, 2014 .

Genetic variation in complement regulators and susceptibility to age-related macular degeneration

D. Clayton, A. Wright, C. Hayward, 2012, Immunobiology.

Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype.

G. Abecasis, L. Smeeth, D. Weeks, 2012, International journal of epidemiology.

Complement factor D in age-related macular degeneration.

A. D. den Hollander, A. Swaroop, M. Ueffing, 2011, Investigative ophthalmology & visual science.

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

John Bradbury, Eamonn Sheridan, Rohit Shetty, 2013, American journal of human genetics.

Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.

G. Holder, V. Plagnol, S. Mansour, 2016, JAMA ophthalmology.

Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2

G. Holder, M. Michaelides, A. Webster, 2011, British Journal of Ophthalmology.

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

R. Holt, E. Volpi, G. Holder, 2014, Ophthalmology.

Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy

F. Rahman, M. Michaelides, A. Moore, 2010, Molecular vision.

Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy.

M. Votruba, S. Bhattacharya, A. Moore, 1998, Journal of medical genetics.

Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy.

F. Fitzke, M. Votruba, A. Moore, 1998, Archives of ophthalmology.

Fibrous dysplasia of the orbit in childhood. Clinical features and management.

I. Munro, A. Moore, J. R. Buncic, 1985, Ophthalmology.

Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.

P. Sieving, G. Holder, A. Webster, 2013, Human molecular genetics.

Bilateral optic nerve sheath meningiomas in a patient with neurofibromatosis type 2.

A. Moore, I. Cunliffe, D. Moffat, 1992, The British journal of ophthalmology.

Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.

W. Berger, S. Bhattacharya, A. Moore, 2010, Investigative ophthalmology & visual science.

Alterations of the 5 ’ untranslated leader region of SLC 16 A 12 lead to age-related cataract

W. Berger, S. Bhattacharya, A. Moore, 2010 .

Biallelic mutation of Protocadherin-21 (PCDH21) causes retinal degeneration in humans

S. Bhattacharya, A. Webster, A. Moore, 2008, Molecular vision.

RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

G. Holder, V. Plagnol, P. Sergouniotis, 2013, Human mutation.

X-linked cone dystrophy caused by mutation of the red and green cone opsins.

Caterina Ripamonti, Naheed Kanuga, Michel Michaelides, 2010, American journal of human genetics.

Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.

Valentina Cipriani, Linda M Luxon, Maria Bitner-Glindzicz, 2014, Ophthalmology.

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration

M. Votruba, P. Yu-Wai-Man, G. Arno, 2019, Annals of neurology.

Title: SSBP1 mutations in dominant optic atrophy with variable retinal degeneration Running head: SSBP1 missense variants cause optic atrophy

Wai-man, M. Votruba, M. Michaelides, 2019 .

A phenotype-genotype correlation study of X-linked retinoschisis.

G. Holder, A. Webster, A. Moore, 2013, Ophthalmology.

PRPH2 MUTATIONS AS A CAUSE OF ELECTRONEGATIVE ERG

G. Holder, A. Webster, A. Robson, 2013, Retina.

The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.

David Williams, A. Dubra, J. Neitz, 2012, Investigative ophthalmology & visual science.

Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).

G. Holder, P. Sergouniotis, A. Webster, 2011, Ophthalmology.

Visual Psychophysics and Physiological Optics Nature of the Visual Loss in Observers With Leber ’ s Congenital Amaurosis Caused by Specific Mutations in RPE 65

A. Stockman, C. Ripamonti, I. Casteels, 2014 .

Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.

G. Holder, V. Plagnol, P. Sergouniotis, 2011, American journal of human genetics.

Encoding Group V Phospholipase A 2 , Cause Benign Fleck Retina

G. Holder, V. Plagnol, P. Sergouniotis, 2011 .

Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.

A. Bird, M. Jay, F. Fitzke, 1995, The British journal of ophthalmology.

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract

D. Mackey, S. Bhattacharya, J. Craig, 2009, Human mutation.

Novel mutations and electrophysiological findings in RGS9 and R9AP associated retinal dysfunction (Bradyopsia)

G. Holder, M. Michaelides, A. Webster, 2009 .

Efficacy and prognostic factors of response to carbonic anhydrase inhibitors in management of cystoid macular edema in retinitis pigmentosa.

G. Liew, M. Michaelides, A. Webster, 2015, Investigative ophthalmology & visual science.

A C Bird, D G Clayton, D. Clayton, 2005, British Journal of Ophthalmology.

Deficits in local and global motion perception arising from abnormal eye movements.

S. Dakin, M. Neveu, G. Jeffery, 2009, Journal of vision.

Association of Steroid 5&agr;-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy

Rachel L. Taylor, Katherine R. Smith, J. Clayton-Smith, 2017, JAMA ophthalmology.

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

L. Biesecker, J. Johnston, A. Verloes, 2009, European Journal of Human Genetics.

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans

Samantha L. Free, Veronica van Heyningen, Sanjay M. Sisodiya, 2001, Nature Genetics.

Blue cone monochromacy: Causative mutations and associated phenotypes

John D. Mollon, Alison J. Hardcastle, Naheed Kanuga, 2009, Molecular vision.

Differential Light-induced Responses in Sectorial Inherited Retinal Degeneration*

P. Garriga, A. Webster, A. Moore, 2014, The Journal of Biological Chemistry.

Sectorial Inherited Retinal Degeneration Differential Light-induced Responses in Molecular Bases of Disease :

P. Garriga, A. Webster, A. Moore, 2014 .

Developmental macular disorders: phenotypes and underlying molecular genetic basis

M. Michaelides, A. Moore, G. Jeffery, 2012, British Journal of Ophthalmology.

Extracapsular cataract surgery with lens implantation in diabetics with and without proliferative retinopathy.

A. Moore, D. Flanagan, I. Cunliffe, 1991, The British journal of ophthalmology.

Clinical and genetic heterogeneity in autosomal dominant cataract

S. Bhattacharya, A. Moore, P. Francis, 1999 .

Anterior polar cataract: Clinical spectrum and genetic linkage in a single family

S. Bhattacharya, A. Moore, D. Mackay, 1998, Eye.

Cataract surgery and primary intraocular lens implantation in children ⩽2 years old in the UK and Ireland: finding of national surveys

P. Cumberland, J. Rahi, A. Moore, 2009, British Journal of Ophthalmology.

Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract

Nikolas Pontikos, M. Michaelides, M. Cheetham, 2018, Eye.

A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract

V. Plagnol, Andreas Massouras, Nikolas Pontikos, 2017, Ophthalmic genetics.

ABCA4 gene screening by next-generation sequencing in a British cohort.

K. Tsubota, K. Tsunoda, M. Michaelides, 2013, Investigative ophthalmology & visual science.

Visual outcome in patients with isolated autosomal dominant congenital cataract.

S. Bhattacharya, A. Moore, P. Francis, 2001, Ophthalmology.

Missense Mutations in the MIP Gene, Encoding the Major Intrinsic Protein of the Lens (Aquaporin-0), Underlie Cataracts in Humans

S. Kaushal, S. Bhattacharya, P. Francis, 2000 .

A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract

S. Bhattacharya, A. Moore, P. Francis, 2011, Molecular vision.

Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4)

S. Bhattacharya, S. Bhattacharya, A. Moore, 2004, Journal of Medical Genetics.

Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy

Dorothy A. Thompson, R. MacLaren, M. Michaelides, 2012, PloS one.

Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations.

D. Gadian, S. Sisodiya, S. Free, 2007, Archives of pediatrics & adolescent medicine.

Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation

S. Sisodiya, S. Free, A. Moore, 2007, International journal of audiology.

Quantitative MR image analysis in subjects with defects in the PAX6 gene

Samantha L. Free, Veronica van Heyningen, Sanjay M. Sisodiya, 2003, NeuroImage.

Von Hippel-Lindau disease.

A. Moore, E. Maher, A. Moore, 2004, The British journal of ophthalmology.

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.

S. Sisodiya, D. Mackey, S. Tuft, 2012, American Journal of Human Genetics.

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.

S. Sisodiya, D. Mackey, S. Tuft, 2012, American journal of human genetics.

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

S. Bhattacharya, J. Beggs, K. Springell, 2010, Human mutation.

Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa

M. Hims, D. Mackey, A. Bird, 2002, European Journal of Human Genetics.

Investigation of SLA4A3 as a candidate gene for human retinal disease

C. Mellersh, M. Michaelides, A. Webster, 2016, Journal of Negative Results in BioMedicine.

Benign Yellow Dot Maculopathy: A New Macular Phenotype.

A. Rachitskaya, G. Holder, Z. Ahmed, 2017, Ophthalmology.

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus

V. Cipriani, Nikolas Pontikos, G. Arno, 2017, Scientific Reports.

Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview

Daniel L. Chao, M. Michaelides, R. Weleber, 1993 .

Inherited Retinal Dystrophy and Asymmetric Axial Length

S. Kaushal, P. Francis, A. Robson, 2002 .

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.

Selective Automated Perimetry Under Photopic, Mesopic, and Scotopic Conditions: Detection Mechanisms and Testing Strategies

R. MacLaren, A. Moore, M. Simunovic, 2016, Translational vision science & technology.

Childhood-onset autosomal recessive bestrophinopathy.

Dorothy A. Thompson, G. Holder, A. Webster, 2011, Archives of ophthalmology.

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies

M. Michaelides, A. Webster, A. Moore, 2018, Ophthalmology.

PAX6, brain structure and function in human adults: advanced MRI in aniridia

Maria Thom, Christian Vollmar, Mahinda Yogarajah, 2016, Annals of clinical and translational neurology.

Explorer PAX 6 , brain structure and function in human adults : advanced MRI in aniridia

M. Symms, S. Sisodiya, M. Thom, 2016 .

Prevalence of cystoid macular oedema, epiretinal membrane and cataract in retinitis pigmentosa

P. Mitchell, G. Liew, A. Kifley, 2018, British Journal of Ophthalmology.

Prevalence of Cystoid Macular Edema, Epiretinal Membrane and Cataract in Retinitis Pigmentosa Short title: CME, ERM and cataract in retinitis pigmentosa

G. Liew, A. Kifley, M. Michaelides, 2018 .

Optogenetic approaches to therapy for inherited retinal degenerations

A. Moore, S. D. De Silva, A. Moore, 2022, The Journal of physiology.

Diverse clinical phenotypes associated with a nonsense mutation in FAM161A

S. Bhattacharya, P. Sergouniotis, A. Webster, 2015, Eye.

High-resolution Imaging in Male Germ Cell-Associated Kinase (MAK)-related Retinal Degeneration.

A. Roorda, J. Duncan, A. Moore, 2018, American journal of ophthalmology.

FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY

O. Mahroo, M. Michaelides, A. Webster, 2017, Retina.

Childhood macular dystrophies

A. Moore, 2009, Current opinion in ophthalmology.

Clinical and Genetic Features of Choroideremia in Childhood.

M. Michaelides, A. Moore, K. Khan, 2016, Ophthalmology.

Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1

J. Duncan, A. Moore, A. Slavotinek, 2017, Ophthalmic Genetics.

Deficient auditory interhemispheric transfer in patients with PAX6 mutations

S. Sisodiya, S. Free, A. Moore, 2004, Annals of neurology.

Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta

O. Mahroo, M. Michaelides, A. Moore, 2018, American journal of ophthalmology.

A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene

G. Holder, P. Sergouniotis, A. Webster, 2012, Acta ophthalmologica.

Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease

B. J. Klevering, C. Hoyng, M. Michaelides, 2017, PloS one.

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.

G. Holder, F. Raymond, K. Carss, 2017, Investigative Ophthalmology and Visual Science.

Incidence and significance of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial adenomatous polyposis coli (FAPC).

A. Moore, E. Maher, D. Koch, 1992, Ophthalmic paediatrics and genetics.

Evaluation of molecular genetic diagnosis in the management of familial adenomatous polyposis coli: a population based study.

Y. Nakamura, D. Barton, H. Nagase, 1993, Journal of medical genetics.

FUNDUS AUTOFLUORESCENCE AND OPTICAL COHERENCE TOMOGRAPHY OF CONGENITAL GROUPED ALBINOTIC SPOTS

John C. Hwang, S. Tsang, A. Bird, 2010, Retina.

Transcription factor overexpression drives reliable differentiation of retinal pigment epithelium from human induced pluripotent stem cells.

B. Conklin, P. So, Ketrin Gjoni, 2020, Stem Cell Research.

The dark choroid in posterior retinal dystrophies.

A. Bird, A. Moore, A. Uliss, 1987, Ophthalmology.

Molecular and Clinical Findings in Patients With Knobloch Syndrome.

G. Holder, Rui Chen, G. Arno, 2016, JAMA ophthalmology.

The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy

A. Stockman, M. Votruba, P. Chinnery, 2017, Mitochondrion.

Who should manage primary retinal detachments?

B. Tom, K. Martin, N. George, 2000, Eye.

Screening for retinopathy of prematurity

A. Moore, A. Moore, 1992, Eye.

Unilateral BEST1-Associated Retinopathy

Dorothy A. Thompson, G. Holder, M. Michaelides, 2016, American journal of ophthalmology.

Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1

Dorothy A. Thompson, G. Holder, P. Sergouniotis, 2010, British Journal of Ophthalmology.

Bullous X linked retinoschisis: clinical features and prognosis

M. Michaelides, A. Moore, S. Wong, 2017, British Journal of Ophthalmology.

Bietti crystalline retinopathy: report of retinal crystal deposition in male adolescent siblings.

P. Sergouniotis, A. Webster, A. Moore, 2012, Archives of ophthalmology.

PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY: Detailed Clinical Study of a Large Cohort

M. Michaelides, A. Webster, A. Moore, 2019, Retina.

Integrity of the cone photoreceptor mosaic in oligocone trichromacy.

Elise W. Dees, J. Mollon, M. Larsen, 2011, Investigative ophthalmology & visual science.

Genetics of childhood cataract.

P. Francis, A. Moore, 2004, Current opinion in ophthalmology.

The cone dysfunction syndromes

D. Hunt, M. Michaelides, A. Moore, 2004, British Journal of Ophthalmology.

Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview

M. Michaelides, R. Weleber, M. Pennesi, 1993 .

Allele-specific gene editing to rescue dominant CRX-associated LCA7 phenotypes in a retinal organoid model

J. Duncan, A. Moore, K. Chirco, 2021, Stem Cell Reports.

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.

Dorothy A. Thompson, G. Holder, V. Plagnol, 2014, Investigative ophthalmology & visual science.

Frequent occurrence of cytomegalovirus retinitis during immune reconstitution warrants regular ophthalmic screening in high-risk pediatric allogeneic hematopoietic stem cell transplant recipients.

P. Veys, A. Worth, P. Amrolia, 2014, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency

J. Duncan, A. Moore, A. Slavotinek, 2022, Ophthalmic genetics.

Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.

D. Hunt, G. Holder, M. Michaelides, 2005, Ophthalmology.

The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.

Mervyn G. Thomas, R. Hertle, P. Tarpey, 2011, Brain : a journal of neurology.