title: Ultrasonographic features of PMEL17 (Silver) mutant gene-associated multiple congenital ocular anomalies (MCOA) in Comtois and Rocky Mountain horses.
abstract: OBJECTIVE
  (1) To describe the ultrasonographic appearance of multiple congenital ocular anomalies (MCOA) in the eyes of horses with the PMEL17 (Silver) mutant gene. (2) To compare the accuracy of B-mode ocular ultrasound to conventional direct ophthalmoscopy.
  
  
  METHODS
  Sixty-seven Comtois and 18 Rocky Mountain horses were included in the study.
  
  
  METHODS
  Horses were classified as being carriers or noncarriers of the PMEL17 mutant allele based on coat color or genetic testing. Direct ophthalmoscopy followed by standardized ultrasonographic examination was performed in all horses.
  
  
  RESULTS
  Seventy-five of 85 horses (88.24%) carried at least one copy of the Silver mutant allele. Cornea globosa, severe iridal hypoplasia, uveal cysts, cataracts, and retinal detachment could be appreciated with ultrasound. Carrier horses had statistically significantly increased anterior chamber depth and decreased thickness of anterior uvea compared with noncarriers (P < 0.05). Uveal cysts had a wide range of location and ultrasonographic appearances. In 51/73 (69.86%) carrier horses, ultrasound detected ciliary cysts that were missed with direct ophthalmoscopy.
  
  
  CONCLUSIONS
  In this study, ultrasonography was useful to identify uveal cysts in PMEL17 mutant carriers and to assess anterior chamber depth.
authors.affiliation: Equine Department, Université de Lyon, Marcy l'Etoile, F-69003, France; VetAgro-Sup, Campus Vétérinaire de Lyon, Marcy l'Etoile, Lyon, F-69280, France.
authors.forename: Emilie M
authors.initials: EM
authors.lastname: Ségard
authors.forename: Marianne C
authors.initials: MC
authors.lastname: Depecker
authors.forename: Johann
authors.initials: J
authors.lastname: Lang
authors.forename: Armin
authors.initials: A
authors.lastname: Gemperli
authors.forename: Jean-Luc
authors.initials: JL
authors.lastname: Cadoré
mesh_terms: D000818:Animals; D005128:Eye Diseases / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D020022:Genetic Predisposition to Disease; D006734:Horse Diseases / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D006736:Horses; D009154:Mutation; D010860:Pigments, Biological; D014463:Ultrasonography
chemical_list: D010860:Pigments, Biological
keywords: Comtois; eye; horse; multiple congenital ocular anomalies; silver dapple gene; ultrasound