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- Title
Lens subluxation in a patient with homocystinuria. Case report.
- Authors
Leopoldo, Garduño-Vieyra; Bruno, Flores Escobar
- Abstract
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 285µmol / L (5-16µmol / L), confirming the diagnosis of homocystinuria. The management is multidisciplinary, the ophthalmological treatment required vitrectomy.
- Subjects
HOMOCYSTINURIA; SUBLUXATION; VITRECTOMY; MARFAN syndrome; CYSTATHIONINE
- Publication
Journal of Ophthalmology (Ukraine) / Oftalʹmologičeskij Žurnal, 2021, Issue 4, p86
- ISSN
0030-0675
- Publication type
Article
- DOI
10.31288/oftalmolzh202148697