Ocular complications in methylenetetrahydrofolate reductase deficiency and its meticulous management

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 anterio...

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Bibliographic Details
Published in:	Kerala journal of ophthalmology Vol. 35; no. 3; pp. 313 - 315
Main Authors:	Stephen, Mary, Kasturi, Nirupama, Deb, Amit, Jayasri, P, Kaliaperumal, Subashini
Format:	Journal Article
Language:	English
Published:	Medknow Publications and Media Pvt. Ltd 01-09-2023 Wolters Kluwer Medknow Publications
Subjects:	Care and treatment Case studies Complications and side effects dislocated lens Eye Glaucoma homocystinuria Injuries intraocular pressure lensectomy Metabolism, Inborn errors of methylenetetrahydrofolate reductase Teenage girls Vision disorders in children India
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Summary:	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.
ISSN:	0976-6677 0976-6677
DOI:	10.4103/kjo.kjo_168_21