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, Omer Azal


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.

Key words: Choroidal neovascularization, drug therapy, hypopituitarism, intravitreal injections, methylenetetrahydrofolate reductase deficiency, MTHFR, ranibizumab, vascular endothelial growth factor

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