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Article

Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy.

European journal of human genetics : EJHG - 1 Apr 2015

Shaikh Rehan S, Reuter Peggy, Sisk Robert A, Kausar Tasleem, Shahzad Mohsin, Maqsood Muhammad I, Yousif Ateeq, Ali Muhammad, Riazuddin Saima, Wissinger Bernd, Ahmed Zubair M

Abstract excerpt

We assessed a large consanguineous Pakistani family (PKAB157) segregating early onset low vision problems. Funduscopic and electroretinographic evaluation of affected individuals revealed juvenile cone-rod dystrophy (CRD) with maculopathy. Other clinical symptoms included loss of color discrimination, photophobia and nystagmus. Whole-exome sequencing, segregation and haplotype analyses demonstrated that a...

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Source

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Identifiers

PMID: 25052312
DOI: 10.1038/ejhg.2014.136
PMCID: PMC4666578

Genes

CNGA3
CNGB3

Variants

Provenance

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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