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Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).

Ophthalmic genetics - 1 Jun 2015

Katagiri Satoshi, Hayashi Takaaki, Yoshitake Kazutoshi, Sergeev Yuri, Akahori Masakazu, Furuno Masaaki, Nishino Jo, Ikeo Kazuho, Tsunoda Kazushige, Tsuneoka Hiroshi, Iwata Takeshi

Abstract excerpt

PURPOSE: We have previously reported clinical features of two siblings, a sister with complete achromatopsia (ACHM) and a brother with incomplete ACHM, in a consanguineous Japanese family. With the current study, we intended to identify a disease-causing mutation in the siblings and to investigate why the phenotypes of the siblings differed. METHODS: We performed a comprehensive ophthalmic examination for each...

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Identifiers

PMID: 25605338
DOI: 10.3109/13816810.2014.991932

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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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