Acquired retinal pigmentary degeneration in a child with 13q deletion syndrome

Zenia P. Aguilera, Peter J. Belin, Kara M. Cavuoto, Parul Jayakar, Craig A. McKeown

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Orbeli syndrome, or 13q deletion syndrome, is a rare condition caused by a distal deletion in the long arm of chromosome 13. The syndrome is characterized by severe physical malformations and developmental delays and has been associated with numerous ocular manifestations. We report the case of a 10-year-old boy with 13q deletion syndrome, who was evaluated for impaired vision and found to have bilateral retinal pigmentary changes resembling those seen in retinitis pigmentosa. There has only been one other case of retinal pigment variation in association with 13q deletion syndrome; however, this represents the first case of bilateral symmetric retinal pigmentary changes with corresponding rod and cone dysfunction on electroretinography.

Original languageEnglish (US)
Article number2293
Pages (from-to)482-484
Number of pages3
JournalJournal of AAPOS
Issue number5
StatePublished - Oct 2015

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology


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