title: A novel case of bilateral high myopia, cataract, and total retinal detachment associated with interstitial 11q deletion.
abstract: OBJECTIVE
  Jacobsen syndrome, also known as 11q deletion syndrome, is a rare condition characterized by multiple anomalies, including developmental delay, cardiac abnormalities, blood dyscrasias, distal limb abnormalities, craniofacial anomalies, and variable ophthalmic manifestations. The syndrome's phenotype is due to a terminal deletion and is usually severely debilitating, frequently associated with fatality. Interstitial deletions, not involving the terminal end, have been associated with a more variable and less severe phenotype.
  
  
  METHODS
  Herein, we describe a case of interstitial 11q deletion in a 16 year-old female with associated systemic and craniofacial abnormalities as well as a novel combination of ocular findings, specifically strabismus, high myopia, bilateral cataracts, and bilateral total retinal detachments.
  
  
  RESULTS
  This case report highlights the necessity for a detailed ophthalmic examination of patients with both interstitial and terminal deletions of the long arm of chromosome 11.
authors.affiliation: Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA.
authors.forename: Reecha
authors.initials: R
authors.lastname: Sachdeva
authors.forename: Jonathan E
authors.initials: JE
authors.lastname: Sears
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Rychwalski
mesh_terms: D000293:Adolescent; D002386:Cataract / Q000235:genetics*; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D005260:Female; D007839:Functional Laterality; D006801:Humans; D009216:Myopia / Q000235:genetics*; D010641:Phenotype; D012163:Retinal Detachment / Q000235:genetics*; D013285:Strabismus / Q000235:genetics