Офтальмол. журн. — 2021. — № 4. — С. 86-87.

УДК 617

http://doi.org/10.31288/oftalmolzh202148697


Lens subluxation in a patient with homocystinuria. Case report

Garduño-Vieyra Leopoldo, ophthalmologist; Flores Escobar Bruno, general practitioner

Clínica Ophthalmology Garduño; Irapuato, Guanajuato (Mexico)

E-mail: brnfelm9@gmail.com

ЯК ЦИТУВАТИ: Garduño-Vieyra Leopoldo. Lens subluxation in a patient with homocystinuria. Case report / Leopoldo Garduño-Vieyra, Escobar Bruno Flores //Офтальмол. журн. — 2021. — № 4. — С. 86-87. 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

References

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4.Cornejo-Olivas M, et al. Homocistinuria, una enfermedad metabólica de diagnóstico tardío en el Perú. Rev Neuropsiquiatr 2015; 78 (4): 247-240. 

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No conflict of interest was declared by the authors

Received 11.01.2021