title: Coats syndrome in facioscapulohumeral dystrophy type 1: frequency and D4Z4 contraction size.
abstract: OBJECTIVE
  To investigate the frequency of Coats syndrome and its association with D4Z4 contraction size in patients with facioscapulohumeral muscular dystrophy type 1 (FSHD1).
  
  
  METHODS
  We searched a North American FSHD registry and the University of Rochester (UR) FSHD research database, reviewed the literature, and sent surveys to 14 FSHD referral centers in the United States and overseas to identify patients with genetically confirmed FSHD1 with a diagnosis of Coats syndrome.
  
  
  RESULTS
  Out of 357 genetically confirmed patients in a North American FSHD registry and 51 patients in the UR database, 3 patients had a self-reported history of Coats disease (0.8%; 95% confidence interval 0.2%-2.2%). In total, we identified 14 patients with FSHD with known genetic contraction size and Coats syndrome confirmed by ophthalmologic examination: 10 from our survey and 4 from the literature. The median age at diagnosis of Coats syndrome was 10 years (interquartile range 14 years). The median D4Z4 fragment size was 13 kilobases (kb) (interquartile range 1 kb). One patient was mosaic (55% 11 kb, and 45% 78 kb).
  
  
  CONCLUSIONS
  Coats syndrome is a rare extramuscular complication of FSHD1 associated with large D4Z4 contractions. Closer surveillance for retinal complications is warranted in patients with D4Z4 fragments ≤15 kb.
authors: Departments of Neurology, University of Rochester Medical Center, Rochester, NY, USA. Jeffrey_Statland@URMC.Rochester.edu
authors: Jeffrey M
authors: JM
authors: Statland
authors: Sabrina
authors: S
authors: Sacconi
authors: Constantine
authors: C
authors: Farmakidis
authors: Colleen M
authors: CM
authors: Donlin-Smith
authors: Mina
authors: M
authors: Chung
authors: Rabi
authors: R
authors: Tawil
mesh_terms: D000328:Adult; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009119:Muscle Contraction / Q000235:genetics*; D009136:Muscular Dystrophies / Q000503:physiopathology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics; D012042:Registries; D058456:Retinal Telangiectasis / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D020080:Tandem Repeat Sequences / Q000235:genetics