Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

Christina Zeitz, Samuel G. Jacobson, Christian Hamel, +22

The American Journal of Human Genetics

Mendelian DisorderOphthalmologyGenetic DisorderMedicineGenetics +3

Mutations in IMPG1 Cause Vitelliform Macular Dystrophies

Gaël Manès, Isabelle Meunier, Almudena Ávila‐Fernández, +25

The American Journal of Human Genetics

Ocular DiseaseMendelian DisorderOphthalmologyGenetic DisorderGenetics +2

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

Isabelle Meunier, Gaël Manès, Béatrice Bocquet, +11

Ophthalmology

Ocular DiseaseOphthalmologyCorneal DystrophyMedicineGenetics +7

Systematic Screening of BEST1 and PRPH2 in Juvenile and Adult Vitelliform Macular Dystrophies: A Rationale for Molecular Analysis

Isabelle Meunier, Audrey Sénéćhal, Claire‐Marie Dhaenens, +8

Ophthalmology

Ocular DiseaseOphthalmologyExperimental OphthalmologyGeneticsSystematic Screening +6

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Claire Angebault, Pierre‐Olivier Guichet, Yasmina Talmat-Amar, +30

The American Journal of Human Genetics

Rtn4ip1 Cause IsolatedMendelian DisorderGenetic DisorderGeneticsOptic Neuropathy +5

Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management

Béatrice Bocquet, Annie Lacroux, Marie-Odile Surget, +27

Ophthalmic Epidemiology

Role for Furin in Tumor Necrosis Factor Alpha-Induced Activation of the Matrix Metalloproteinase/Sphingolipid Mitogenic Pathway

Edwige Tellier, Anne Nègre‐Salvayre, Béatrice Bocquet, +4

Molecular and Cellular Biology

Neutral SphingomyelinaseApoptosisImmunologyCell DeathPathology +19

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

Camille Piro-Mégy, Emmanuelle Sarzi, Aleix Tarrés-Solé, +21

Journal of Clinical Investigation

GeneticsDominant Optic AtrophyMolecular BiologyMolecular GeneticsDisease Gene Identification +15

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness

Ajoy Vincent, Isabelle Audo, Erika Tavares, +36

The American Journal of Human Genetics

Biallelic MutationsGnb3 CauseMendelian DisorderOphthalmologyGenetic Disorder +5

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity

Joanna Grenier, Isabelle Meunier, Vincent Daïen, +9

Ophthalmology

Ocular DiseaseMendelian DisorderOphthalmologyNeurological DisorderGenetic Disorder +10