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Article

USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families.

BMC ophthalmology - 29 Apr 2021

Ahmed Asif Naveed, Tahir Raheel, Khan Niamat, Ahmad Mushtaq, Dawood Muhammad, Basit Abdul, Yasin Muhammad, Nowshid Maha, Marwan Muhammad, Sultan Komal, Saleha Shamim

Abstract excerpt

BACKGROUND: Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy, affecting approximately 1 in 4000 individuals worldwide. The most common form of syndromic RP is Usher syndrome (USH) accounting for approximately 20-30 % of RP cases. Mutations in the USH2A gene cause a significant proportion of recessive non-syndromic RP and USH type II (USH2). This study aimed to determine the causative role...

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Identifiers

PMID: 33926394
DOI: 10.1186/s12886-021-01957-9
PMCID: PMC8086330

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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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