Gene discovery and prevalence in inherited retinal dystrophies.
Inherited retinal dystrophies are Mendelian neurodegenerative conditions classified as pigmentary retinopathies, macular dystrophies and others. Over a 21-year period, from 1990 to 2011, we have screened in Montpellier 107 genes in 609 families and have identified a causal mutation in 68.5% of them. Following a gene candidate approach, we established that RPE65, the isomerohydrolase of the visual cycle, is responsible for severe childhood blindness (Leber congenital amaurosis or early onset retinal dystrophy). In an ongoing study, we screened the genes in a series of 283 families with dominant retinitis pigmentosa and we have estimated that 80% of the families have a mutation in a known gene. A similar study is currently undergoing for autosomal recessive retinitis pigmentosa. Finally, we have identified IMPG1 as a responsible gene for rare cases of macular vitelliform dystrophy with a dominant or recessive inheritance.
Inserm U.1051, institut des neurosciences de Montpellier, hôpital Saint-Éloi, BP 74103, 80, rue Augustin-Fliche, 34091 Montpellier cedex 5, France. Electronic address: christian.hamel@inserm.fr.
Christian P
CP
Hamel
D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D057130:Leber Congenital Amaurosis / Q000235:genetics; D008297:Male; D009154:Mutation; D015995:Prevalence; D058499:Retinal Dystrophies / Q000453:epidemiology* / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics
Amaurose congénitale de Leber; Criblage moléculaire; Dystrophie maculaire; Dystrophie vitelliforme maculaire; Dystrophies rétiniennes héréditaires; Inherited retinal dystrophies; Leber congenital amaurosis; Macular dystrophy; Molecular screening; Retinitis pigmentosa; Rétinite pigmentaire; Vitelliform macular dystrophy