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Article

Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families.

BMC ophthalmology - 10 May 2023

Marwan Muhammad, Dawood Muhammad, Ullah Mukhtar, Shah Irfan Ullah, Khan Niamat, Hassan Muhammad Taimur, Karam Muhammad, Rawlins Lettie E, Baple Emma L, Crosby Andrew H, Saleha Shamim

Abstract excerpt

BACKGROUND: Retinitis Pigmentosa (RP) is a clinically and genetically progressive retinal dystrophy associated with severe visual impairments and sometimes blindness, the most common syndromic form of which is Usher syndrome (USH). This study aimed to further increase understanding of the spectrum of RP in the Khyber Pakhtunkhwa region of Pakistan. METHODOLOGY: Four consanguineous families of Pashtun ethnic group...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37165311
DOI: 10.1186/s12886-023-02948-8
PMCID: PMC10170854

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