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

Béatrice Bocquet 1 Annie Lacroux 2 Marie-Odile Surget Corinne Baudoin 3 Virginie Marquette 4 Gael Manes 4 Maxime Hebrard 5 Audrey Sénéchal 6 Cécile Delettre 4 Anne-Françoise Roux 7, 8 Mireille Claustres 8, 7 Claire-Marie Dhaenens 9 Jean-Michel Rozet 10 Isabelle Perrault 10 Jean-Paul Bonnefont 11 Josseline Kaplan 10 Hélène Dollfus 12 Patrizia Amati-Bonneau 13 Dominique Bonneau 14 Pascal Reynier 15 Isabelle Audo 16 Christina Zeitz 16 José Alain Sahel Véronique Paquis-Flucklinger 17 Patrick Calvas 18 Benoit Arveiler 19 Suzanne Kohl Bernd Wissinger 20 Catherine Blanchet 3 Isabelle Meunier 4 Christian Hamel 4, *
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.
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Béatrice Bocquet, Annie Lacroux, Marie-Odile Surget, Corinne Baudoin, Virginie Marquette, et al.. Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management. Ophthalmic Epidemiology, Taylor & Francis, 2013, 20 (1), pp.13-25. ⟨10.3109/09286586.2012.737890⟩. ⟨hal-02446185⟩



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