Lens subluxation in a patient with homocystinuria. Case report

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 ma...

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Bibliographic Details
Published inOftalmologicheskiĭ zhurnal. Vol. 93; no. 4; pp. 86 - 97
Main Authors Leopoldo, Garduño-Vieyra, Escobar Bruno, Flores
Format Journal Article
LanguageEnglish
Published Ukrainian Society of Ophthalmologists 01.08.2021
Subjects
homocystinuria
lens subluxation
marfan syndrome
vitrectomy
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Summary: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.
ISSN:0030-0675
2412-8740
DOI:10.31288/oftalmolzh202148697