Compound Homozygous Rare Mutations in PLCE1 and HPS1 Genes Associated with Autosomal Recessive Retinitis Pigmentosa in Pakistani Families

Compound Homozygous Rare Mutations in PLCE1 and HPS1 Genes Associated with Autosomal Recessive Retinitis Pigmentosa in Pakistani Families

Background: Retinitis pigmentosa (RP) belongs to pigmentary retinopathies, a generic name for all retinal dystrophies with a major phenotypical and genotypical variation, characterized by progressive reduction of photoreceptor functionality of the rod and cone. Global prevalence of RP is ~ 1/4000 a...

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Bibliographic Details
Main Authors: Masroor Ellahi Babar, Akhtar Ali, Syed Hassan Abbas, Mirza Jawad ul Hasnain, Nida Babar, Hira Babar, Tanveer Hussain, Asif Nadeem, Namra Ayub, Sundus Shahid, Muhammad Tariq Pervez
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2022-09-01
Series:Iranian Journal of Public Health
Subjects:
Retinitis pigmentosa
Whole-exome sequencing
Pakistan
Online Access:https://ijph.tums.ac.ir/index.php/ijph/article/view/24223

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