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Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4.

Human genetics - 1 Dec 2005

Zhang Qingjiong, Zulfiqar Fareeha, Xiao Xueshan, Riazuddin S Amer, Ayyagari Radha, Sabar Farooq, Caruso Raphael, Sieving Paul A, Riazuddin Sheikh, Hejtmancik J Fielding

Abstract excerpt

A severe form of autosomal recessive retinitis pigmentosa (arRP) was identified in a large Pakistani family ascertained in the Punjab province of Pakistan. All affected individuals in the family had night blindness in early childhood, early complete loss of useful vision, and typical RP fundus changes plus macular degeneration. After exclusion of known arRP loci, a genome-wide scan was performed using...

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Source

Identifiers

PMID: 16189710
DOI: 10.1007/s00439-005-0054-4

Genes

ABCA4
GNAI3
OLFM3

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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