title: Coats-like retinopathy in an infant with preclinical facioscapulohumeral dystrophy.
abstract: 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.
authors.affiliation: Pediatric Ophthalmology and Ocular Genetics Services, Wills Eye Institute, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.
authors.forename: Anuradha
authors.initials: A
authors.lastname: Ganesh
authors.forename: Swathi
authors.initials: S
authors.lastname: Kaliki
authors.forename: Carol L
authors.initials: CL
authors.lastname: Shields
mesh_terms: D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D003452:Cryosurgery; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D007223:Infant; D017075:Laser Coagulation; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D058456:Retinal Telangiectasis / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D012171:Retinal Vessels / Q000473:pathology; D041623:Tomography, Optical Coherence; D014792:Visual Acuity