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Homocystinuria and ocular complications - A review
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Homocystinuria and ocular complications - A review
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Journal Article
Homocystinuria and ocular complications - A review
2022
Overview
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.
Publisher
Wolters Kluwer India Pvt. Ltd,Medknow Publications & Media Pvt. Ltd,Wolters Kluwer - Medknow,Wolters Kluwer Medknow Publications
