Ocular complications in methylenetetrahydrofolate reductase deficiency and its meticulous management

Autor:	Mary Stephen, Nirupama Kasturi, Amit Kumar Deb, P Jayasri, Subashini Kaliaperumal
Jazyk:	angličtina
Rok vydání:	2023
Předmět:	dislocated lens homocystinuria intraocular pressure lensectomy methylenetetrahydrofolate reductase Ophthalmology RE1-994
Zdroj:	Kerala Journal of Ophthalmology, Vol 35, Iss 3, Pp 313-315 (2023)
Druh dokumentu:	article
ISSN:	0976-6677
DOI:	10.4103/kjo.kjo_168_21
Popis:	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.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/a181dacfd6fb43ffba7f597dfecd83a1 Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF Plný text ve formátu HTML
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