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

• Main Authors: Masroor Ellahi Babar (Author), Akhtar Ali (Author), Syed Hassan Abbas (Author), Mirza Jawad ul Hasnain (Author), Nida Babar (Author), Hira Babar (Author), Tanveer Hussain (Author), Asif Nadeem (Author), Namra Ayub (Author), Sundus Shahid (Author), Muhammad Tariq Pervez (Author)
• Format: Book
• Published: Tehran University of Medical Sciences, 2022-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 an...