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American Journal of Human Genetics|September 18, 2024
Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopiaElisa Erjavec, Clémentine Angée, Djihad Hadjadj, et al.Nature Genetics|July 31, 2012
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophyIsabelle Perrault, Sylvain Hanein, Xavier Zanlonghi, et al.The Journal of Clinical Investigation|September 25, 2019
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathyCamille Piro-Mégy, Emmanuelle Sarzi, Aleix Tarrés-Solé, et al.Scientific Reports|August 13, 2021
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathyPierre-Henry Gabrielle, Laurence Faivre, Isabelle Audo, et al.Journal of Medical Genetics|August 21, 2020
Pathogenic variants in <i>IMPG1</i> cause autosomal dominant and autosomal recessive retinitis pigmentosaGuillaume Olivier, Marta Corton, Daniela Intartaglia, et al.American Journal of Human Genetics|December 19, 2012
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindnessChristina Zeitz, Samuel G Jacobson, Christian P Hamel, et al.Neurology. Genetics|June 18, 2020
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophyMajida Charif, Arnaud Chevrollier, Naïg Gueguen, et al.American Journal of Human Genetics|September 3, 2013
Mutations in IMPG1 cause vitelliform macular dystrophiesGaël Manes, Isabelle Meunier, Almudena Avila-Fernández, et al.American Journal of Ophthalmology|December 3, 2014
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical featuresGaël Manes, Tremeur Guillaumie, Werner L Vos, et al.JAMA Ophthalmology|April 9, 2026
Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic AtrophyCléis Beaulieu, Aymane Bouzidi, Valérie Desquiret-Dumas, et al.Pageof 6