Retinopathy associated with facioscapulohumeral muscular dystrophy. A case report treated with intravitreal dexamethasone implant and laser photocoagulation.

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive muscular dystrophy that affects especially the muscles of the face, shoulder girdle and upper arms. It may present extramuscular manifestations such as hearing loss and retinopathy. Up to 75% of patients may show alterations in the retinal vasculature such as vascular tortuosity, microaneurysms, telangiectasias, retinal ischemia and exudation, and in less than 1% of cases it may present as Coats-like syndrome. We present a 40-year-old male with FSHD who, in an ophthalmologic examination, showed exudative retinopathy in his left eye (LE) with peripheral retinal ischemia treated with laser therapy, and macular edema (ME) treated with intravitreal dexamethasone injection (IDI). We would like to emphasize the importance of performing an ophthalmological examination on all patients with FSHD to rule out associated retinal pathology, and thus prevent loss of visual acuity (VA) with early treatment.