Congenital cataract: An ocular manifestation of classical homocystinuria.

ABSTRACT:

Background

Homocystinuria is an autosomal recessive metabolic disorder occurring due to the defects in cystathionine-β-synthase enzyme. The study was carried out to investigate a Pakistani family presenting bilateral congenital cataract with symptoms of classical homocystinuria at LRBT Free Eye Hospital, Lahore, Pakistan.

Methods

Three affected individuals of the family presented skeletal deformations, intellectual disability, speech delay, and myopia with bilateral congenital cataract. Genetic analysis on DNA samples from affected individuals was done through whole exome sequencing to identify underlying genetic variant causing disease phenotypes in the family. In silico analysis was done to predict the effect of variation on the structure of mutant protein.

Results

SUBMITTER: Saba N 

PROVIDER: S-EPMC8457696 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature