Retinal telangiectasis in facioscapulohumeral muscular dystrophy with deafness
E. B. Gurwin, R. B. Fitzsimons, K. S. Sehmi and A. C. Bird
A 22-year-old patient with newly diagnosed facioscapulohumeral (FSH)
muscular dystrophy had a macular lesion in her right eye and poor central
vision, which had been present since early childhood. Fluorescein
angiographic examination revealed bilateral peripheral vessel closure,
peripheral retinal telangiectasis, and hyperfluorescence in both foveae.
This widespread vascular abnormality was deemed responsible for her macular
disease. Her mother, brother, and sister, all of whom are affected by
varying degrees of FSH muscular dystrophy and clinical deafness, also have
abnormal retinal vasculature, as determined by fluorescein angiography.
However, none had related visual symptoms and two showed no ophthalmoscopic
evidence of vascular abnormalities. In young patients with unexplained
retinal vascular lesions, the diagnosis of FSH muscular dystrophy should be
considered. Similarly, young patients with FSH muscular dystrophy should be
examined for sight-threatening and potentially treatable vascular
retinopathy.
