Retinoschisis and hyperopia associated with partial monosomy of 6q and partial trisomy of 11q

Nika Bagheri, Reecha S. Bahl, Arun D. Singh, Paul J. Rychwalski

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)107-111
Number of pages5
JournalOphthalmic genetics
Volume35
Issue number2
DOIs
StatePublished - Jun 2014
Externally publishedYes

Keywords

  • Chromosome 11q
  • Chromosome 6q
  • Hyperopia
  • Retinoschisis

ASJC Scopus subject areas

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

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