Форма документа : Стаття із журналу Шифр видання : Автор(и) : Garduno Vieyra Leopoldo, Flores Escobar Bruno Назва : Lens subluxation in a patient with homocystinuria. Case report Місце публікування : Офтальмол. журнал. - Одеса, 2021. - N 4. - С. 86-87 (Шифр ОУ6/2021/4) Анотація: Homocystinuria is an inborn error of metabolism caused by cystathionine b-synthetase deficiency, with autosomal recessive inheritance. The clinical picture is characterized by skeletal changes, mental deficit, lens subluxation, and a tendency to thromboembolic phenomena. The case of a 35-year-old male patient with a marfanoid habit, eviscerated right eye, and abrupt loss of visual acuity of the left eye is reported, showing lens luxation; the determination of plasma homocysteine was reported elevated 285?mol / L (5-16?mol / L), confirming the diagnosis of homocystinuria. The management is multidisciplinary, the ophthalmological treatment required vitrectomy. Дод.точки доступу: Flores, Escobar Bruno