Poster De Conférence Année : 2019

Syndromic inherited retinal dystrophies in a national reference centre specialized in inherited sensory diseases

Résumé

Purpose : To determine the prevalence and types of syndromic diseases reported in a national reference centre specialized in inherited sensory disorders. Methods : The clinical and genetic database comprising 4267 families was screened for syndromic disorders. Results : Forty different syndromic diseases were diagnosed in 610 families (610/4267, 14%). Usher syndromes type 1 and 2 were the most frequent diseases observed in 290 families (47.5%). The other main systemic diseases were Bardet-Biedl syndrome (7%), Wolfram syndrome (2.4%) and Alström syndrome (1.8%). Nine families with Leber congenital amaurosis (12%), four families with macular dystrophies (1%) and two families with choroideremia(3%) had extra-ocular symptoms mostly neurological symptoms. Among the 1284 families with presumed isolated retinitis pigmentosa, 56 developed a syndromic form (4%), mainly linked to mutations in ciliopathy genes. The diagnosis of syndromic diseases or syndromic forms of ophthalmological diseases was made in 72% of cases (437/610 families) by the ophthalmologist. Conclusions : Among inherited retinal dystrophies, syndromic forms are not so rare, and Usher syndrome is the most frequent. The ophthalmologist helps to determine the final diagnosis in 72% of cases.

Fichier non déposé

Dates et versions

hal-04951226 , version 1 (17-02-2025)

Identifiants

  • HAL Id : hal-04951226 , version 1

Citer

Isabelle Meunier, Béatrice Bocquet, Catherine Blanchet, Sabine Defoort-Dhellemmes, Agathe Roubertie, et al.. Syndromic inherited retinal dystrophies in a national reference centre specialized in inherited sensory diseases. Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology (ARVO), Apr 2019, Vancouver (BC), Canada. Investigative Ophthalmology & Visual Science. ⟨hal-04951226⟩

Collections

28 Consultations
0 Téléchargements

Partager

  • More