J.ophthalmol.(Ukraine).2021;4:86-87.
http://doi.org/10.31288/oftalmolzh202148697
Received: 11 January 2021; Published on-line: 16 August 2021
Lens subluxation in a patient with homocystinuria. Case report
Garduño-Vieyra Leopoldo, Flores Escobar Bruno
Clínica Ophthalmology Garduño; Irapuato, Guanajuato (Mexico)
E-mail: brnfelm9@gmail.com
TO CITE THIS ARTICLE: Garduño-Vieyra Leopoldo, Flores Escobar Bruno. Lens subluxation in a patient with homocystinuria. Case report. J.ophthalmol.(Ukraine). 2021;4:86-7. http://doi.org/10.31288/oftalmolzh202148697
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.
Кey words: homocystinuria, lens subluxation, Marfan syndrome, vitrectomy
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The authors did not receive funding for this article.
Authors do not have conflict of interest in this article.