Identifies a novel GNAT1 variant causing Riggs-type CSNB and retinal atrophy, suggesting diagnostic implications.
Our study suggests the GNAT1 p.Gln200Arg variant can manifest as both a Riggs-type CSNB and a rod-cone dystrophy within the same pedigree. This work expands the phenotypic spectrum of GNAT1-associated retinopathy and identifies GNAT1 as another potential cause of a fundus sheen.
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Chou et al. (2026) studied this question.
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