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Article

Congenital cataract: An ocular manifestation of classical homocystinuria.

Molecular genetics & genomic medicine - 1 Sept 2021

Saba Neelam, Irshad Saba

Abstract excerpt

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,...

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Identifiers

PMID: 34342182
DOI: 10.1002/mgg3.1742
PMCID: PMC8457696

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CBS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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