title: The ophthalmic findings in Cohen syndrome.
abstract: OBJECTIVE
  Cohen syndrome is an uncommon autosomal recessive condition comprising a characteristic facial appearance, mental retardation, benign neutropenia, and retinal dystrophy. This study aimed to identify patients with Cohen syndrome from across the United Kingdom in order to define the variability of ophthalmic manifestations.
  
  
  METHODS
  Ophthalmic assessment was undertaken and past ophthalmic records reviewed in 22 patients with classic features of Cohen syndrome.
  
  
  RESULTS
  All patients had visual problems which commonly started in the preschool years. 82% developed strabismus or refractive error during the first 5 years of life. 70% developed high myopia by the second decade. By contrast with the findings of others, early onset retinal dystrophy was common, occurring in 80% of study patients under age 5 years. 35% of patients were registered partially sighted or blind.
  
  
  CONCLUSIONS
  The ophthalmic abnormalities associated with Cohen syndrome, including high myopia and a generalised, severe retinal dystrophy, are of early onset and frequently result in severe visual handicap. Cohen syndrome should be considered in the young, developmentally delayed child who presents with severe myopia and nyctalopia.
authors.affiliation: Academic Unit of Medical Genetics and Regional Genetics Service, St Mary's Hospital, Manchester, UK. katec@central.cmht.nwest.nhs.uk
authors.forename: K E
authors.initials: KE
authors.lastname: Chandler
authors.forename: S
authors.initials: S
authors.lastname: Biswas
authors.forename: I C
authors.initials: IC
authors.lastname: Lloyd
authors.forename: N
authors.initials: N
authors.lastname: Parry
authors.forename: J
authors.initials: J
authors.lastname: Clayton-Smith
authors.forename: G C M
authors.initials: GC
authors.lastname: Black
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D019066:Facies; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D008875:Middle Aged; D009216:Myopia / Q000175:diagnosis; D012030:Refractive Errors / Q000175:diagnosis; D012160:Retina / Q000002:abnormalities*; D013285:Strabismus / Q000175:diagnosis; D013577:Syndrome; D006113:United Kingdom; D014786:Vision Disorders / Q000175:diagnosis*