Clinical and para-clinical description of a novel mutation for Schnyder dystrophy in a French family.

CONCLUSION: The discovery of a new variant within the UBAID1 gene suggests its pathogenesis in view of the clinical features available to us. The dystrophy is initially asymptomatic before the high number of deposits becomes disabling. PMID: 30446344 [PubMed - as supplied by publisher]
Source: Journal Francais d Ophtalmologie - Category: Opthalmology Tags: J Fr Ophtalmol Source Type: research