Acquired retinal pigmentary degeneration in a child with 13q deletion syndrome.
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.
Miami Children's Hospital, Miami, Florida; Florida International University, Herbert Wertheim College of Medicine, Miami, Florida. Electronic address: zenia.aguilera@mch.com.
Zenia P
ZP
Aguilera
Florida International University, Herbert Wertheim College of Medicine, Miami, Florida.
Peter J
PJ
Belin
Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida.
Kara M
KM
Cavuoto
Miami Children's Hospital, Miami, Florida.
Parul
P
Jayakar
Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida.
Craig A
CA
McKeown
D002648:Child; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D004596:Electroretinography; D006801:Humans; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D020419:Photoreceptor Cells, Vertebrate / Q000502:physiology; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000503:physiopathology