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

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.