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Article

Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Nov 2001

Downes S M, Payne A M, Kelsell R E, Fitzke F W, Holder G E, Hunt D M, Moore A T, Bird A C

Abstract excerpt

OBJECTIVE: To describe the phenotype in 4 families with dominantly inherited cone-rod dystrophy, 1 with an R838C mutation and 1 with an R838H mutation in the guanylate cyclase 2D (GUCY2D) gene encoding retinal guanylate cyclase-1. METHODS: Psychophysical and electrophysiological evaluation and co...

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Identifiers

PMID: 11709018
DOI: 10.1001/archopht.119.11.1667

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11709018-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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