Acquired retinal pigmentary degeneration in a child with 13q deletion syndrome
| Autor: | Kara M. Cavuoto, Peter J. Belin, Zenia P. Aguilera, Craig A. McKeown, Parul Jayakar |
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| Rok vydání: | 2015 |
| Předmět: |
Male
Pathology medicine.medical_specialty genetic structures Chromosome Disorders chemistry.chemical_compound Retinitis pigmentosa Electroretinography medicine Humans Child Oligonucleotide Array Sequence Analysis Chromosome 13 Chromosomes Human Pair 13 13q deletion syndrome medicine.diagnostic_test business.industry Retinal pigmentary degeneration Retinal Anatomy medicine.disease Impaired Vision Cone dysfunction Ophthalmology chemistry Pediatrics Perinatology and Child Health sense organs Chromosome Deletion business Retinitis Pigmentosa Photoreceptor Cells Vertebrate |
| Zdroj: | Journal of American Association for Pediatric Ophthalmology and Strabismus. 19:482-484 |
| ISSN: | 1091-8531 |
| DOI: | 10.1016/j.jaapos.2015.05.021 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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