Abstract
BACKGROUND: Adult vitelliform macular dystrophy results in loss of central vision. The use of systemic sildenafil has been proven to increase choroidal blood flow. This is a report of a favorable long-term treatment outcome using systemic sildenafil for a patient with adult onset vitelliform macular dystrophy. CASE PRESENTATION: A 55-year-old woman presenting with bilateral subretinal vitelliform lesions was initially assessed by full-field electroretinogram, electro-oculogram and direct sequencing of the RDS/PRPH2 and BEST1 genes. Best-corrected visual acuity, spectral domain-optical coherence tomography and color fundus photography were obtained and analyzed over a 5-year treatment course which included bevacizumab (Avastin) injections in the right eye and left eye and subsequent ranibizumab (Lucentis) treatments in the left eye. Lipid resolution in the right eye was seen with bevacizumab after two months of treatment, while the left eye was unresponsive to eight subsequent injections of bevacizumab, followed by ranibizumab over a period of twenty months. Systemic sildenafil was started, off label, at 20 months following course of intravitreal injections. Following initiation of sildenafil, there were both measured and patient-reported improvements in the left eye following after two months of sildenafil. CONCLUSIONS: Systemic phosphodiesterase (PDE)-5 and -6 inhibitors may facilitate the removal of lipid and waste from the subretinal space by increasing perfusion in patients with vitelliform lesions and aid in maintaining and/or recovering photoreceptor function.
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