Coats-like retinopathy in an infant with preclinical facioscapulohumeral dystrophy.

[coats disease]

Facioscapulohumeral dystrophy (FSHD ) is an autosomal-dominant disorder characterized by weakness of the face , upper arm , shoulder , and lower limb musculature , with an onset between the first and third decades . Coats disease is a congenital disorder of retinal vascular development characterized by unilateral peripheral retinal telangiectasia and progressive subretinal and intraretinal exudation . This condition has a predilection for children and is usually isolated . Retinal vascular changes similar to those seen in Coats disease have been demonstrated by fluorescein angiography in 40 % to 75 % of patients with FSHD . Most patients have asymptomatic retinal telangiectasia found at ocular screening in adulthood after diagnosis of FSHD . We report a 7 -month -old infant with bilateral Coats-like retinopathy in which the eye disease was discovered before findings of FSHD were clinically evident . To our knowledge , this patient represents the youngest reported case of preclinical FSHD with ocular disease .