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Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9)

JAMA ophthalmology, 2017-11, Vol.135 (11), p.1232

2017

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Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes

Ophthalmology (Rochester, Minn.), 2014-12, Vol.121 (12), p.2406-2414

2014

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Impact of Retinitis Pigmentosa on Quality of Life, Mental Health and Employment Among Young Adults

American journal of ophthalmology, 2017-05, Vol.177, p.169-174

2017

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Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

Human molecular genetics, 2015-01, Vol.24 (1), p.230-242

2015

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Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease

International journal of molecular sciences, 2019-10, Vol.20 (20), p.5053

2019

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Progressive chorioretinal involvement in a patient with light-chain (AL) amyloidosis: a case report

BMC ophthalmology, 2020-02, Vol.20 (1), p.59-6, Article 59

2020

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Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

International journal of molecular sciences, 2019-09, Vol.20 (19), p.4854

2019

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Expanding the Mutation Spectrum in ABCA4 : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

International journal of molecular sciences, 2018-07, Vol.19 (8), p.2196

2018

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Real-World Safety and Effectiveness of Voretigene Neparvovec: Results up to 2 Years from the Prospective, Registry-Based PERCEIVE Study

Biomolecules (Basel, Switzerland), 2024-01, Vol.14 (1), p.122

2024

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Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy

International journal of molecular sciences, 2021-08, Vol.22 (15), p.7875

2021

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Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy

PloS one, 2016-12, Vol.11 (12), p.e0168271-e0168271

2016

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Qualitative exploration of the visual function impairments and impacts on vision-dependent activities of daily living in Retinitis Pigmentosa and Leber Congenital Amaurosis: content validation of the ViSIO-PRO and ViSIO-ObsRO measures

Journal of patient-reported outcomes, 2023-07, Vol.7 (1), p.74-74, Article 74

2023

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RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation

Human mutation, 2012-01, Vol.33 (1), p.73-80

2012

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Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients

Genes, 2019-02, Vol.10 (2), p.151

2019

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Functional and high resolution retinal imaging assessment in a case of ocular siderosis

Documenta ophthalmologica, 2014-02, Vol.128 (1), p.69-75

2014

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Adult-onset foveomacular vitelliform dystrophy: A fresh perspective

Progress in retinal and eye research, 2015-07, Vol.47, p.64-85

2015

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ATXN7-Related Cone-Rod Dystrophy: The Integrated Functional Evaluation of the Cerebellum (CERMOI) Study

JAMA ophthalmology, 2024-04, Vol.142 (4), p.301

2024

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Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort

JAMA ophthalmology, 2021-03, Vol.139 (3), p.278

2021

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Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B

JAMA ophthalmology, 2019-06, Vol.137 (6), p.669

2019

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Outer Retinal Alterations Associated With Visual Outcomes in Best Vitelliform Macular Dystrophy

American journal of ophthalmology, 2019-12, Vol.208, p.429-437

2019

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Functional Vision in Patients With Biallelic USH2A Variants

American journal of ophthalmology, 2024-04, Vol.260, p.200-211

2024

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Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement

American journal of human genetics, 2020-06, Vol.106 (6), p.859-871

2020

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

American journal of ophthalmology, 2020-11, Vol.219, p.87-100

2020

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Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

Human mutation, 2019-08, Vol.40 (8), p.1145-1155, Article humu.23768

2019

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Poppers-Associated Retinal Toxicity

The New England journal of medicine, 2010-10, Vol.363 (16), p.1583-1585

2010

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Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9)

Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes

Impact of Retinitis Pigmentosa on Quality of Life, Mental Health and Employment Among Young Adults

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease

Progressive chorioretinal involvement in a patient with light-chain (AL) amyloidosis: a case report

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

Expanding the Mutation Spectrum in ABCA4 : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

Real-World Safety and Effectiveness of Voretigene Neparvovec: Results up to 2 Years from the Prospective, Registry-Based PERCEIVE Study

Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy

Qualitative exploration of the visual function impairments and impacts on vision-dependent activities of daily living in Retinitis Pigmentosa and Leber Congenital Amaurosis: content validation of the ViSIO-PRO and ViSIO-ObsRO measures

RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation

Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients

Functional and high resolution retinal imaging assessment in a case of ocular siderosis

Adult-onset foveomacular vitelliform dystrophy: A fresh perspective

ATXN7-Related Cone-Rod Dystrophy: The Integrated Functional Evaluation of the Cerebellum (CERMOI) Study

Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort

Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B

Outer Retinal Alterations Associated With Visual Outcomes in Best Vitelliform Macular Dystrophy

Functional Vision in Patients With Biallelic USH2A Variants

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement

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

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

Poppers-Associated Retinal Toxicity

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