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首页> 外文期刊>Journal of AAPOS: The official publication of the American Association for Pediatric Ophthalmology and Strabismus >Acquired retinal pigmentary degeneration in a child with 13q deletion syndrome
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Acquired retinal pigmentary degeneration in a child with 13q deletion syndrome

机译：患有13q缺失综合征的儿童获得性视网膜色素变性

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摘要

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.
机译：Orbeli综合征或13q缺失综合征是由13号染色体长臂的远端缺失引起的罕见病。该综合征的特征是严重的身体畸形和发育迟缓，并伴有多种眼部表现。我们报道了一个患有13q缺失综合征的10岁男孩的案例，该男孩进行了视力障碍评估，发现其双侧视网膜色素变化与色素性视网膜炎相似。仅有另一例视网膜色素变异与13q缺失综合征相关的病例;然而，这代表了视网膜电图上双侧对称性视网膜色素变性伴有相应的视杆和视锥功能障碍的第一例。

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