Article
A mild form of POC1B-associated retinal dystrophy with relatively preserved cone system function.
Documenta ophthalmologica. Advances in ophthalmology - 1 Aug 2023
Hayashi Takaaki, Mizobuchi Kei, Kameya Shuhei, Ueno Shinji, Matsuura Tomokazu, Nakano Tadashi
Abstract excerpt
PURPOSE: Biallelic variants in POC1B are rare causes of autosomal recessive cone dystrophy associated with generalized cone system dysfunction. In this report, we describe the clinical characteristics of a Japanese male patient with POC1B-associated retinopathy with relatively preserved cone system function. METHODS: We performed whole-exome sequencing (WES) to identify the disease-causing variants and a...
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