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Isabelle Anne Meunier, Beatrice BOCQUET, Catherine Blanchet, Sabine defoort, Agathe Roubertie, Marjorlaine Willems, david genevieve, Patricia Blanchet, Vasiliki Kalatzis, camille lemattre; Syndromic inherited retinal dystrophies in a national reference centre specialized in inherited sensory diseases.. Invest. Ophthalmol. Vis. Sci. 2019;60(9):3970.
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© ARVO (1962-2015); The Authors (2016-present)
To determine the prevalence and types of syndromic diseases reported in a national reference centre specialized in inherited sensory disorders.
The clinical and genetic database comprising 4267 families was screened for syndromic disorders.
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.
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.
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