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Article

Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).

The British journal of ophthalmology - 1 Nov 2003

Michaelides M, Aligianis I A, Holder G E, Simunovic M, Mollon J D, Maher E R, Hunt D M, Moore A T

Abstract excerpt

AIM: To describe the phenotype of a three generation consanguineous Pakistani family containing six individuals with autosomal recessive cone dystrophy caused by mutation in GNAT2. METHODS: Five of the six affected individuals underwent an ophthalmological examination, electrodiagnostic testing, fundus photography, autofluorescence imaging, and detailed psychophysical testing. RESULTS: All five examined patients...

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Source

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Identifiers

PMID: 14609822
DOI: 10.1136/bjo.87.11.1317
PMCID: PMC1771876

Genes

GNAT2
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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