Homocystinuria and ocular complications - A review
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Updated: Sep 5, 2025

Isolation of Primary Mouse Retinal Pigmented Epithelium Cells
Published on: November 4, 2022
Mehzabeen Rahman1, Mohita Sharma1, Pragati Aggarwal1
1Department of Ophthalmology, Tirupati Eye Center, Noida, Uttar Pradesh, India.
Abstract:
Homocystinuria is a rare metabolic inborn disorder caused due to dysfunctional cystathionine β-synthase (CBS) enzyme activity, thus resulting in elevated levels of methionine and homocysteine in the blood and urine. The timely recognition of this rare metabolic disorder and prompt methionine-restricted diet are crucial in lessening the systemic consequences. The recalcitrant cases have a higher risk for cardiovascular diseases, neurodegenerative diseases, neural tube defects, and other severe clinical complications. This review aims to present the ophthalmic spectrum of homocystinuria and its molecular basis, the disease management, as well as the current and potential treatment approaches with a greater emphasis on preventive strategies.
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