A novel case of bilateral high myopia, cataract, and total retinal detachment associated with interstitial 11q deletion

Reecha Sachdeva, Jonathan E. Sears, Paul J. Rychwalski

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

Purpose: 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.

Original languageEnglish (US)
Pages (from-to)84-88
Number of pages5
JournalOphthalmic genetics
Volume31
Issue number2
DOIs
StatePublished - Jun 2010
Externally publishedYes

Keywords

  • Cataract
  • Chromosome 11
  • High myopia
  • Interstitial 11q deletion
  • Jacobsen Syndrome
  • Retinal detachment

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

Fingerprint

Dive into the research topics of 'A novel case of bilateral high myopia, cataract, and total retinal detachment associated with interstitial 11q deletion'. Together they form a unique fingerprint.

Cite this