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

1.Carbajal RL., Barrios FR., Vela AM., Rodríguez HR., Zarco RJ. Homocistinuria: informe de 2 pacientes. Bol Med Hosp Infant Mex. 2006; 63: 331-326. 

2.Gonzalez-Castaño C., et al. Luxación del cristalino: etología y resultados. ARCH SOC ESP OFTALMOL 2006; 81: 478-471.

3.Ortiz-Gonzalez Al., et al. Subluxación de cristalino asociada a homocistinuria: reporte de un caso. Rev. Mex. Oftalmol. 2013; 87 (2): 125-119. 

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

5.García GD, Pons CL, Legra NS, Utra PR. Heterogenicidad clinico-genética de la luxación del cristalino. Presentación de tres casos. Rev Cubana Genet Comunit 2012; 6 (3): 58-54. 

6.Olivar RJ, et al. Homocistinuria; curso clínico y tratamiento dietético; a propósito de dos casos. Nutr Hosp. 2012; 27 (6): 2138-2133. 

 

No conflict of interest was declared by the authors

Received 11.01.2021