Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene
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DOI: 10.1080/13816810.2021.1923041
Abstract: ABSTRACT 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… read more here.
Keywords: late onset; onset retinal; 562c pro188thr; retinal degeneration ... See more keywords