• J Res Med Sci · Jan 2014

    Case Reports

    Combined choroidal neovascularization and hypopituitarism in a patient with homozygous mutation in methylenetetrahydrofolate reductase gene.

    • Aydogan Aydogdu, Cem Haymana, Kamil Baskoy, Ali H Durukan, Gokhan Ozgur, and Omer Azal.
    • Department of Endocrinology and Metabolism, Gulhane School of Medicine, Ankara, Turkey.
    • J Res Med Sci. 2014 Jan 1; 19 (1): 75-9.

    AbstractWe 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.

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