1. Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.
- Author
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Bocquet B, Lacroux A, Surget MO, Baudoin C, Marquette V, Manes G, Hebrard M, Sénéchal A, Delettre C, Roux AF, Claustres M, Dhaenens CM, Rozet JM, Perrault I, Bonnefont JP, Kaplan J, Dollfus H, Amati-Bonneau P, Bonneau D, Reynier P, Audo I, Zeitz C, Sahel JA, Paquis-Flucklinger V, Calvas P, Arveiler B, Kohl S, Wissinger B, Blanchet C, Meunier I, and Hamel CP
- Subjects
- ATP-Binding Cassette Transporters genetics, Adolescent, Adult, Aged, Aged, 80 and over, Child, Child, Preschool, DNA Mutational Analysis, Extracellular Matrix Proteins genetics, Eye Diseases, Hereditary diagnosis, Eye Diseases, Hereditary genetics, Eye Proteins genetics, Female, France epidemiology, Humans, Infant, Intermediate Filament Proteins genetics, Male, Membrane Glycoproteins genetics, Middle Aged, Molecular Diagnostic Techniques, Mutation, Myosin VIIa, Myosins genetics, Nerve Tissue Proteins genetics, Optic Nerve Diseases diagnosis, Optic Nerve Diseases genetics, Peripherins, Polymerase Chain Reaction, Retinal Dystrophies diagnosis, Retinal Dystrophies genetics, Young Adult, Eye Diseases, Hereditary epidemiology, Optic Nerve Diseases epidemiology, Retinal Dystrophies epidemiology
- Abstract
Purpose: Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are rare diseases defined by specific clinical and molecular features. The relative prevalence of these conditions was determined in Southern France., Methods: Patients recruited from a specialized outpatient clinic over a 21-year period underwent extensive clinical investigations and 107 genes were screened by polymerase chain reaction/sequencing., Results: There were 1957 IRD cases (1481 families) distributed in 70% of pigmentary retinopathy cases (56% non-syndromic, 14% syndromic), 20% maculopathies and 7% stationary conditions. Patients with retinitis pigmentosa were the most frequent (47%) followed by Usher syndrome (10.8%). Among non-syndromic pigmentary retinopathy patients, 84% had rod-cone dystrophy, 8% cone-rod dystrophy and 5% Leber congenital amaurosis. Macular dystrophies were encountered in 398 cases (30% had Stargardt disease and 11% had Best disease). There were 184 ION cases (127 families) distributed in 51% with dominant optic neuropathies, 33% with recessive/sporadic forms and 16% with Leber hereditary optic neuropathy. Positive molecular results were obtained in 417/609 families with IRDs (68.5%) and in 27/58 with IONs (46.5%). The sequencing of 5 genes (ABCA4, USH2A, MYO7A, RPGR and PRPH2) provided a positive molecular result in 48% of 417 families with IRDs. Except for autosomal retinitis pigmentosa, in which less than half the families had positive molecular results, about 75% of families with other forms of retinal conditions had a positive molecular diagnosis., Conclusions: Although gene discovery considerably improved molecular diagnosis in many subgroups of IRDs and IONs, retinitis pigmentosa, accounting for almost half of IRDs, remains only partly molecularly defined.
- Published
- 2013
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