Uncovering the Novel Genetic Determinants of Primary Congenital Glaucoma in Pakistani Families.

doi:10.1155/humu/1806353

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Article

Uncovering the Novel Genetic Determinants of Primary Congenital Glaucoma in Pakistani Families.

Human mutation - 1 Jan 2026

Khan Hamza, Bukhari Sadia, Ahmad Nauman, Bhutto Israr Ahmed, Mahsood Yousaf Jamal, Haroon Mohsin Iqbal, Uddin Muhammad Moeez, Memon Amal Shabir, Rehman Atta Ur, Zainab Shah, Munir Asad, Ali Syeda Hafiza Benish, Ajmal Muhammad, Qamar Raheel, Hirbo Jibril, Azam Maleeha, Ayub Humaira

Abstract excerpt

Primary congenital glaucoma (PCG) is an early-onset eye disorder, particularly prevalent in populations with high consanguinity rates. In Pakistan, approximately 63% of marriages are reported to be consanguineous, contributing to an increased burden of autosomal-recessive disorders. The genetic basis of PCG in the highly consanguineous Pakistani population is largely unexplored. This study was conducted to...

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Topics

Humans
Pakistan
Cytochrome P-450 CYP1B1
Glaucoma
Pedigree

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Female

Male

Consanguinity

Mutation

Exome Sequencing

Polymorphism, Single Nucleotide

Genetic Predisposition to Disease

Genetic Association Studies

Source

Open in PubMed Open full text

Identifiers

PMID: 42761588
DOI: 10.1155/humu/1806353
PMCID: PMC13586781

Genes

CYP1B1

Variants

Provenance

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