Congenital cataract: An ocular manifestation of classical homocystinuria,Molecular Genetics & Genomic Medicine

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Congenital cataract: An ocular manifestation of classical homocystinuria
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2021-08-02 , DOI: 10.1002/mgg3.1742
Neelam Saba ₁ , Saba Irshad ₁

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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.

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