Bilateral Coats’ response in a female patient leads to diagnosis of facioscapulohumeral muscular dystrophy

Abstract

Background Facioscapulohumeral dystrophy (FSHD) is a rare autosomal dominant muscle disease that affects about 5 in 100,000 individuals. Retinal vascular changes that mimic Coats’ disease have been described in previously diagnosed FSHD. We report a diagnosis of FSHD only after the detection of a rare bilateral Coats’ response in a female patient. Case report A 39-year-old asymptomatic black woman presented for a second opinion of a lesion previously diagnosed as an isolated hemangioma in the left temporal retina. She had no relevant family or personal health history. She was not born prematurely, did not show evidence of autoimmune disease, and had a normal hemoglobin electrophoresis. Examination found an exudative mass in the left temporal retina and subtle telangiectatic vessels in the right temporal retina. Optomap ® (Optos ®, Dunfermline, Scotland) fluorescein angiography found multiple areas of capillary drop-out, arborization, and telangiectatic microaneurysms in both eyes (left eye greater than right eye). Genetic testing results were positive for a deletion of tandemly repeated DNA (D4Z4 repeats) in chromosome 4q35 consistent with a diagnosis of FSHD. Conclusion A prior diagnosis of FSHD alerts the clinician to look for a Coats’ response in the retina. However, bilateral Coats’ disease in a female should alert the clinician to test for FSHD.