Article
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene.
Ophthalmic genetics - 1 Oct 2021
De Zaeytijd Julie, Coppieters Frauke, De Bruyne Marieke, Van Royen Jasper, Roels Dimitri, Six Rani, Van Cauwenbergh Caroline, De Baere Elfride, Leroy Bart P
Abstract excerpt
Background: Late-onset retinal degeneration (L-ORD) is a rare autosomal dominant retinal dystrophy related to C1QTNF5 gene variants.Materials and methods: Twenty-six patients (21-81 years) with L-ORD due to c.562C>A p.(Pro188Thr) with a mean follow-up time of 8 years (range 1-37 years) underwent an extensive ophthalmic work-up.Results: Best-corrected visual acuity (BCVA) and visual fields were maintained up to 50...
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