Department of Ophthalmology, Tirupati Eye Center, Noida, Uttar Pradesh, India.
Indian J Ophthalmol. 2022 Jul;70(7):2272-2278. doi: 10.4103/ijo.IJO_309_22.
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.
高胱氨酸尿症是一种罕见的代谢性遗传疾病，由胱硫醚 β-合酶（CBS）酶功能障碍引起，导致血液和尿液中蛋氨酸和同型半胱氨酸水平升高。及时识别这种罕见的代谢紊乱，并进行蛋氨酸限制饮食，对于减轻全身后果至关重要。顽固病例患心血管疾病、神经退行性疾病、神经管缺陷和其他严重临床并发症的风险更高。本综述旨在介绍高胱氨酸尿症的眼科表现及其分子基础、疾病管理以及目前和潜在的治疗方法，重点介绍预防策略。
