Abstract
Purpose: Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant cancer syndrome characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax, and multifocal renal carcinomas. Ophthalmologic findings associated with BHDS include flecked chorioretinopathy, choroidal melanoma, iris melanocytosis, and eyelid fibrofolliculomas. We present the case of a retinal dystrophy associated with BHDS. Methods: Observational case report. Results: A 48-year-old woman was referred for poor night vision and peripheral visual field loss. She had a past medical history of Birt-Hogg-Dubé syndrome, manifesting as multiple pulmonary cysts and atelectasis of both lungs. Best corrected visual acuity was 20/25 OU. Posterior segment examination revealed significant vessel attenuation and peripheral retinopathy consistent with a retinal dystrophy. Conclusion: This case associates BHDS with retinal pigment epithelial changes and visual field defects. Patients with BHDS should undergo ophthalmological examination as part of their care.
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