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Article

Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1.

Eye (London, England) - 1 Sept 2007

Smith M, Whittock N, Searle A, Croft M, Brewer C, Cole M

Abstract excerpt

AIMS: To describe the phenotype of members of a large Caucasian British family affected by autosomal dominant cone-rod dystrophy due to an R838C mutation in the guanylate cyclase 2D (GUCY2D) gene encoding retinal guanylate cyclase-1 (RETGC-1). METHODS: Retrospective review of 29 patients from four generations of the same family. RESULTS: Visual symptoms usually commenced in childhood. Only two patients, aged 14...

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PMID: 17041576
DOI: 10.1038/sj.eye.6702612

Genes

RPE

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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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Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1.PMID 17041576Read ↗

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