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Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms

Progress in retinal and eye research, 2015-03, Vol.45, p.58-110

2015

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Neoplasia and intraocular inflammation: From masquerade syndromes to immunotherapy-induced uveitis

Progress in retinal and eye research, 2019-09, Vol.72, p.100761-100761, Article 100761

2019

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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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The Negative ERG: Clinical Phenotypes and Disease Mechanisms of Inner Retinal Dysfunction

Survey of ophthalmology, 2008-01, Vol.53 (1), p.16-40

2008

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Generation of gene corrected human isogenic iPSC lines (IDVi003-A_CR13, IDVi003-A_CR21, IDVi003-A_CR24) from an inherited retinal dystrophy patient-derived IPSC line ITM2B-5286-3 (IDVi003-A) carrying the ITM2B c.782A > C variant using CRISPR/Cas9

Stem cell research, 2023-09, Vol.71, p.103166-103166, Article 103166

2023

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Longitudinal Changes in Scotopic and Mesopic Macular Function as Assessed with Microperimetry in Patients With Stargardt Disease: SMART Study Report No. 2

American journal of ophthalmology, 2022-04, Vol.236, p.32-44

2022

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Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother

Stem cell research, 2019-12, Vol.41, p.101625-101625, Article 101625

2019

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A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night Blindness

American journal of human genetics, 2010-10, Vol.87 (4), p.523-531

2010

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Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation

Stem cell research, 2017-12, Vol.25 (C), p.26-29

2017

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Martinique Crinkled Retinal Pigment Epitheliopathy

Ophthalmology (Rochester, Minn.), 2016-10, Vol.123 (10), p.2196-2204

2016

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Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene

Stem cell research, 2017-10, Vol.24 (C), p.1-4

2017

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Non-vasogenic cystoid maculopathies

Progress in retinal and eye research, 2022-11, Vol.91, p.101092, Article 101092

2022

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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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Extensive Macular Atrophy with Pseudodrusen-like appearance (EMAP): progression kinetics and late-stage findings

Ophthalmology (Rochester, Minn.), 2024-04

2024

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Development and Validation of a Novel Mobility Test for Rod-Cone Dystrophies: From Reality to Virtual Reality

American journal of ophthalmology, 2024-02, Vol.258, p.43-54

2024

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Functional Vision in Patients with Bi-allelic USH2A Variants

American journal of ophthalmology, 2023-12

2023

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Assessing Photoreceptor Status in Retinal Dystrophies: From High-Resolution Imaging to Functional Vision

American journal of ophthalmology, 2021-10, Vol.230, p.12-47

2021

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Phenotypic Characteristics of a French Cohort of Patients with X-Linked Retinoschisis

Ophthalmology (Rochester, Minn.), 2018-10, Vol.125 (10), p.1587-1596

2018

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Change in Cone Structure Over 24 Months in USH2A-Related Retinal Degeneration

American journal of ophthalmology, 2023-08, Vol.252, p.77-93

2023

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Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 24-Month Period (ProgStar Report No. 17)

American journal of ophthalmology, 2023-06, Vol.250, p.157-170

2023

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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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Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms

Neoplasia and intraocular inflammation: From masquerade syndromes to immunotherapy-induced uveitis

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

The Negative ERG: Clinical Phenotypes and Disease Mechanisms of Inner Retinal Dysfunction

Generation of gene corrected human isogenic iPSC lines (IDVi003-A_CR13, IDVi003-A_CR21, IDVi003-A_CR24) from an inherited retinal dystrophy patient-derived IPSC line ITM2B-5286-3 (IDVi003-A) carrying the ITM2B c.782A > C variant using CRISPR/Cas9

Longitudinal Changes in Scotopic and Mesopic Macular Function as Assessed with Microperimetry in Patients With Stargardt Disease: SMART Study Report No. 2

Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother

A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night Blindness

Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation

Martinique Crinkled Retinal Pigment Epitheliopathy

Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene

Non-vasogenic cystoid maculopathies

Adult-onset foveomacular vitelliform dystrophy: A fresh perspective

Extensive Macular Atrophy with Pseudodrusen-like appearance (EMAP): progression kinetics and late-stage findings

Development and Validation of a Novel Mobility Test for Rod-Cone Dystrophies: From Reality to Virtual Reality

Functional Vision in Patients with Bi-allelic USH2A Variants

Assessing Photoreceptor Status in Retinal Dystrophies: From High-Resolution Imaging to Functional Vision

Phenotypic Characteristics of a French Cohort of Patients with X-Linked Retinoschisis

Three‐Year Safety Results of SAR422459 (EIAV‐ABCA4) Gene Therapy in Patients With ABCA4‐Associated Stargardt Disease: An Open‐Label Dose‐Escalation Phase I/IIa Clinical Trial, Cohorts 1‐5

Change in Cone Structure Over 24 Months in USH2A-Related Retinal Degeneration

Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 24-Month Period (ProgStar Report No. 17)

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

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