title: Combined choroidal neovascularization and hypopituitarism in a patient with homozygous mutation in methylenetetrahydrofolate reductase gene.
abstract: 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.
authors.affiliation: Department of Endocrinology and Metabolism, Gulhane School of Medicine, Ankara, Turkey.
authors.forename: Aydogan
authors.initials: A
authors.lastname: Aydogdu
authors.affiliation: Department of Endocrinology and Metabolism, Gulhane School of Medicine, Ankara, Turkey.
authors.forename: Cem
authors.initials: C
authors.lastname: Haymana
authors.affiliation: Department of Endocrinology and Metabolism, Gulhane School of Medicine, Ankara, Turkey.
authors.forename: Kamil
authors.initials: K
authors.lastname: Baskoy
authors.affiliation: Department of Ophthalmology, Gulhane School of Medicine, Ankara, Turkey.
authors.forename: Ali H
authors.initials: AH
authors.lastname: Durukan
authors.affiliation: Department of Hematology, Gulhane School of Medicine, Ankara, Turkey.
authors.forename: Gokhan
authors.initials: G
authors.lastname: Ozgur
authors.affiliation: Department of Endocrinology and Metabolism, Gulhane School of Medicine, Ankara, Turkey.
authors.forename: Omer
authors.initials: O
authors.lastname: Azal
keywords: Choroidal neovascularization; MTHFR; drug therapy; hypopituitarism; intravitreal injections; methylenetetrahydrofolate reductase deficiency; ranibizumab; vascular endothelial growth factor