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GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference?

Retina (Philadelphia, Pa.) - 1 Aug 2014

Zobor Ditta, Zrenner Eberhart, Wissinger Bernd, Kohl Susanne, Jägle Herbert

Abstract excerpt

PURPOSE: To compare the phenotype of patients with heterozygous mutation in GUCY2D or GUCA1A causing autosomal dominant cone or cone-rod dystrophies. METHODS: Five patients from one family with GUCA1A and nine patients from four families with GUCY2D mutations were included. Psychophysical and electrophysiological examinations were performed to study retinal function. Fundus autofluorescence imaging and spectral...

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PMID: 24875811
DOI: 10.1097/IAE.0000000000000129

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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