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Article

A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds.

Ophthalmic genetics - 1 Feb 2020

Khan Rizwan, Shabbir Rana Muhammad Kamran, Raza Irum, Abdullah Umair, Naeem Muhammad Asif, Ahmed Ashfaque, Malik Sajid, Hu Zhengmao, Xia Kun

Abstract excerpt

Background: Retinitis punctate albescens (RPA) is a rare form of retinal dystrophy characterized by congenital stationary night blindness and a characteristic fundus appearance. Missense or nonsense mutations in RDH5 in homozygous or heterozygous state have been implicated in RPA.Material and methods: Two consanguineous Pakistani kindreds with the highly variable manifestation of RPA were studied. Whole-exome...

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PMID: 31933420
DOI: 10.1080/13816810.2019.1709124

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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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