Combined choroidal neovascularization and hypopituitarism in a patient with homozygous mutation in methylenetetrahydrofolate reductase gene
Journal of Research in Medical Sciences, cilt.19, sa.1, ss.75-79, 2014 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 19 Sayı: 1
- Basım Tarihi: 2014
- Dergi Adı: Journal of Research in Medical Sciences
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.75-79
- Anahtar Kelimeler: Choroidal neovascularization, drug therapy, hypopituitarism, intravitreal injections, methylenetetrahydrofolate reductase deficiency, MTHFR, ranibizumab, vascular endothelial growth factor
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.