Article
Expanding the Mutation Spectrum of Non-Syndromic Retinitis Pigmentosa in Consanguineous Pakistani Families: Unraveling Novel Pathogenic Variants in RP1, PDE6B, and PRCD Genes for Precision Diagnosis.
Genes - 29 Apr 2026
Shan Tayyaba, Mukhtar Nimra, Ullah Sayyed Hammad, Ullah Asad, Khan Asfandyar Ahmad, Li Yumei, Wang Meng, Tehreem Raeesa, Aziz Amtul, Afshan Kiran, Chen Rui, Firasat Sabika
Abstract excerpt
Background: Non-syndromic retinitis pigmentosa (RP) is characterized by rod-cone degeneration, resulting in night blindness, visual field constriction, and eventual blindness. Recessively inherited RP is predominantly exacerbated in consanguineous populations, such as Pakistan. This study aimed to perform the genetic analysis of sixteen non-syndromic RP segregating Pakistani families, and to summarize the...
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