title: Retinoschisis and hyperopia associated with partial monosomy of 6q and partial trisomy of 11q.
abstract: BACKGROUND
  Retinoschisis, or retinal lamellar splitting, can occur in a number of hereditary conditions. The most common cause of congenital or childhood onset retinoschisis is the clinical entity known as juvenile retinoschsis, which is caused by mutations in the X-linked retinoschisis 1 gene. Genes other than X-linked retinoschisis 1 gene have rarely been implicated in association with hereditary retinoschisis.
  
  
  METHODS
  We describe a 9-year-old male who presented with several phenotypic features associated with partial monosomy of chromosome 6q and partial trisomy of chromosome 11q, including myelomeningocele, mental and growth retardation, seizures, microcephaly, scoliosis, and facial dysmorphisms, as well as novel ocular findings including bilateral retinoschisis and hyperopia.
  
  
  RESULTS
  This case report highlights the necessity for a detailed ophthalmic examination of patients with both 6q deletions as well as 11q duplications to ensure accurate and timely diagnosis and treatment of the complications associated with the described ocular conditions.
authors.affiliation: Cleveland Clinic Lerner College of Medicine of Case Western Reserve University , Cleveland, OH , USA and.
authors.forename: Nika
authors.initials: N
authors.lastname: Bagheri
authors.forename: Reecha S
authors.initials: RS
authors.lastname: Bahl
authors.forename: Arun D
authors.initials: AD
authors.lastname: Singh
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Rychwalski
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D006956:Hyperopia / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D001523:Mental Disorders / Q000175:diagnosis / Q000235:genetics; D041441:Retinoschisis / Q000175:diagnosis / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*