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中文Retinitis Pigmentosa-Deafness Syndrome
Alias:
Retinitis Pigmentosa 21, Formerly
Retinitis Pigmentosa 8, Formerly
Retinitis Pigmentosa-Deafness
Rp21, Formerly
Usher Syndrome
Rp8, Formerly
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视网膜色素变性-耳聋综合症，也称为视网膜色素变性21，以前，与乌舍综合症和视网膜色素变性、耳聋、智力迟钝和性腺功能减退有关，症状包括咳嗽、打鼾和耳鸣。与视网膜色素变性-耳聋综合症有关的重要基因是MT-TS2（线粒体编码的精氨酸转运RNA（AGU/C）2）。Omega 3脂肪酸已在该疾病的背景下被提及。附属组织包括视网膜，相关表型为听觉/前庭/耳。
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