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Article

Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.

Molecular vision - 1 Jan 2012

Ajmal Muhammad, Khan Muhammad Imran, Neveling Kornelia, Khan Yar Muhammad, Ali Syeda Hafiza Benish, Ahmed Waqas, Iqbal Muhammad Safdar, Azam Maleeha, den Hollander Anneke I, Collin Rob W J, Qamar Raheel, Cremers Frans P M

Abstract excerpt

PURPOSE: To identify the underlying genetic causes of fundus albipunctatus (FA), a rare form of congenital stationary night blindness that is characterized by the presence of white dots in the midperiphery of the retina and delayed dark adaptation, in Pakistan. METHODS: Two families with FA were identified by fundus examination, and genome-wide single nucleotide polymorphism genotyping was performed for two...

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Identifiers

PMID: 22736946
PMCID: PMC3380946

Genes

RDH5

Variants

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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