Ocular complications in methylenetetrahydrofolate reductase deficiency and its meticulous management

Abstract

A 13-year-old girl with a systemic diagnosis of homocystinuria (methylenetetrahydrofolate reductase deficiency type) associated with intellectual disability, skeletal abnormalities (genu varum, kyphoscoliosis, and arachnodactyly), and pancytopenia presented with bilateral ectopia lentis with anterior lens dislocation and secondary glaucoma in the left eye. Following medical management of glaucoma, the child underwent pars plana lensectomy with sutureless scleral fixation of the intraocular lens under general anesthesia. On follow-up, the intraocular pressure was controlled. The patient has also been started on systemic medications as per the pediatrician's advice.