Article
Phenotypic and Genetic Heterogeneity of a Pakistani Cohort of 15 Consanguineous Families Segregating Variants in Leber Congenital Amaurosis-Associated Genes.
Genes - 21 Dec 2024
Akhtar Zainab, Altaf Sumaira, Li Yumei, Bibi Sana, Shah Jamal, Afshan Kiran, Wang Meng, Hussain Hafiz Muhammad Jafar, Qureshi Nadeem, Chen Rui, Firasat Sabika
Abstract excerpt
BACKGROUND: Leber congenital amaurosis (LCA) is a congenital onset severe form of inherited retinal dystrophy (IRD) and a common cause of pediatric blindness. Disease-causing variants in at least 14 genes are reported to predispose LCA phenotype. LCA is inherited as an autosomal recessive disease. It can be an isolated eye disorder or as part of a syndrome, such as Senior Loken or Joubert syndrome. Sequencing...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.