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Article

Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants.

Ophthalmic genetics - 1 Apr 2018

Kominami Azusa, Ueno Shinji, Kominami Taro, Nakanishi Ayami, Ito Yasuki, Fujinami Kaoru, Tsunoda Kazushige, Hayashi Takaaki, Kikuchi Sachiko, Kameya Shuhei, Iwata Takeshi, Terasaki Hiroko

Abstract excerpt

BACKGROUND: Biallelic variants of POC1B were recently reported to cause autosomal recessive non-syndromic cone dystrophy. However, the number of studies supporting this is limited, and the clinical phenotypes of cone dystrophy have not been definitively determined. The purpose of this study was to report the phenotype of a case of POC1B-associated cone dystrophy. MATERIALS AND METHODS: The medical chart of one...

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PMID: 29220607
DOI: 10.1080/13816810.2017.1408846

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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