title: Ocular manifestations of Seckel syndrome.
abstract: OBJECTIVE
  To report ophthalmic findings in three siblings with Seckel syndrome.
  
  
  METHODS
  Observational case report. Three siblings with Seckel syndrome were examined.
  
  
  RESULTS
  Severe bilateral pigmentary retinopathy with severe myopia and astigmatism was found in all three patients. Electroretinography was performed on the eldest sibling and showed no detectable rod or cone responses.
  
  
  CONCLUSIONS
  Severe, early onset, bilateral retinal degeneration with severe myopia and astigmatism may be associated with Seckel syndrome.
authors.affiliation: Bascom Palmer Eye Institute, University of Miami, 900 NW 17th St., Miami, FL 33136, USA.
authors.forename: M F
authors.initials: MF
authors.lastname: Guirgis
authors.forename: B L
authors.initials: BL
authors.lastname: Lam
authors.forename: C W
authors.initials: CW
authors.lastname: Howard
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001251:Astigmatism / Q000175:diagnosis*; D002648:Child; D004392:Dwarfism / Q000175:diagnosis*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D008831:Microcephaly / Q000175:diagnosis*; D009216:Myopia / Q000175:diagnosis*; D012174:Retinitis Pigmentosa / Q000175:diagnosis*; D013577:Syndrome