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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2023-01-01
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| Series: | Kerala Journal of Ophthalmology |
| Subjects: | |
| Online Access: | http://www.kjophthal.com/article.asp?issn=0976-6677;year=2023;volume=35;issue=3;spage=313;epage=315;aulast=Stephen |
| _version_ | 1797231759994126336 |
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| author | Mary Stephen Nirupama Kasturi Amit Kumar Deb P Jayasri Subashini Kaliaperumal |
| author_facet | Mary Stephen Nirupama Kasturi Amit Kumar Deb P Jayasri Subashini Kaliaperumal |
| author_sort | Mary Stephen |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-24T15:49:30Z |
| format | Article |
| id | doaj.art-a181dacfd6fb43ffba7f597dfecd83a1 |
| institution | Directory Open Access Journal |
| issn | 0976-6677 |
| language | English |
| last_indexed | 2024-04-24T15:49:30Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Kerala Journal of Ophthalmology |
| spelling | doaj.art-a181dacfd6fb43ffba7f597dfecd83a12024-04-01T12:58:19ZengWolters Kluwer Medknow PublicationsKerala Journal of Ophthalmology0976-66772023-01-0135331331510.4103/kjo.kjo_168_21Ocular complications in methylenetetrahydrofolate reductase deficiency and its meticulous managementMary StephenNirupama KasturiAmit Kumar DebP JayasriSubashini KaliaperumalA 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.http://www.kjophthal.com/article.asp?issn=0976-6677;year=2023;volume=35;issue=3;spage=313;epage=315;aulast=Stephendislocated lenshomocystinuriaintraocular pressurelensectomymethylenetetrahydrofolate reductase |
| spellingShingle | Mary Stephen Nirupama Kasturi Amit Kumar Deb P Jayasri Subashini Kaliaperumal Ocular complications in methylenetetrahydrofolate reductase deficiency and its meticulous management Kerala Journal of Ophthalmology dislocated lens homocystinuria intraocular pressure lensectomy methylenetetrahydrofolate reductase |
| title | Ocular complications in methylenetetrahydrofolate reductase deficiency and its meticulous management |
| title_full | Ocular complications in methylenetetrahydrofolate reductase deficiency and its meticulous management |
| title_fullStr | Ocular complications in methylenetetrahydrofolate reductase deficiency and its meticulous management |
| title_full_unstemmed | Ocular complications in methylenetetrahydrofolate reductase deficiency and its meticulous management |
| title_short | Ocular complications in methylenetetrahydrofolate reductase deficiency and its meticulous management |
| title_sort | ocular complications in methylenetetrahydrofolate reductase deficiency and its meticulous management |
| topic | dislocated lens homocystinuria intraocular pressure lensectomy methylenetetrahydrofolate reductase |
| url | http://www.kjophthal.com/article.asp?issn=0976-6677;year=2023;volume=35;issue=3;spage=313;epage=315;aulast=Stephen |
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