Combined choroidal neovascularization and hypopituitarism in a patient with homozygous mutation in methylenetetrahydrofolate reductase gene
| Title: | Combined choroidal neovascularization and hypopituitarism in a patient with homozygous mutation in methylenetetrahydrofolate reductase gene |
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| Authors: | Aydogan Aydogdu, Cem Haymana, Kamil Baskoy, Ali H Durukan, Gokhan Ozgur, Omer Azal |
| Source: | Journal of Research in Medical Sciences, Vol 19, Iss 1, Pp 75-79 (2014) |
| Publisher Information: | Wolters Kluwer Medknow Publications, 2014. |
| Publication Year: | 2014 |
| Collection: | LCC:Medicine |
| Subject Terms: | Choroidal neovascularization, drug therapy, hypopituitarism, intravitreal injections, methylenetetrahydrofolate reductase deficiency, MTHFR, ranibizumab, vascular endothelial growth factor, Medicine |
| More Details: | We report a case of choroidal neovascularization (CNV) secondary to methylenetetrahydrofolate reductase (MTHFR) gene mutation in a 20-year-old male patient with hypopituitarism. Treatment with three consecutive injections of intravitreal ranibizumab (anti-vascular endothelial growth factor) resulted in significant improvement of the patient′s vision and the appearance of the macula. A search of the literature produced no previously reported case of MTHFR gene mutation associated both CNV and possibly hypopituitarism. With hormone replacement therapy of hypopituitarism, acetyl salicylic acid 100 mg/day also was started. The patient was clinically stable both for CNV and other thromboembolic disorders over a 6-month follow-up and also 1-year follow-up period. |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 1735-1995 1735-7136 |
| Relation: | http://www.jmsjournal.net/article.asp?issn=1735-1995;year=2014;volume=19;issue=1;spage=75;epage=79;aulast=Aydogdu; https://doaj.org/toc/1735-1995; https://doaj.org/toc/1735-7136 |
| Access URL: | https://doaj.org/article/7a9c2cc5609d4b42ad33f715a943e909 |
| Accession Number: | edsdoj.7a9c2cc5609d4b42ad33f715a943e909 |
| Database: | Directory of Open Access Journals |
| ISSN: | 17351995 17357136 |
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| Published in: | Journal of Research in Medical Sciences |
| Language: | English |