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

ABSTRACT:

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 were investigated which were referred by the local collaborating ophthalmologists. In total 42 individuals in four families were recruited and investigated using whole exome and dideoxy sequencing. Among them, 20 were affected individuals including 6 in both family 1 and 2, 5 in family 3 and 3 in family 4.

Result

Pathogenic gene variants were identified in all

SUBMITTER: Marwan M 

PROVIDER: S-EPMC10170854 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature