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Article

Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients.

Japanese journal of ophthalmology - 1 Jan 2000

Ito Sei, Nakamura Makoto, Ohnishi Yoshitaka, Miyake Yozo

Abstract excerpt

PURPOSE: To describe the clinical phenotypes of two Japanese families with autosomal dominant cone-rod dystrophy (CORD) caused by an R838H or R838C mutation. METHODS: Complete ophthalmological examinations were performed on three affected individuals from two Japanese families with autosomal dominant CORD. One family had an R838H mutation, and the other family had an R838C mutation in the GUCY2D gene. The tests...

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PMID: 15175914
DOI: 10.1007/s10384-003-0050-y

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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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