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

Abstract

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.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.