医学
纤毛病
巴德-比德尔综合征
听力损失
分子遗传学
Usher综合征
遗传学
遗传异质性
粒线体疾病
色素性视网膜炎
线粒体DNA
表型
眼科
听力学
生物
基因
视网膜
作者
Thales Antonio Cabral de Guimarães,Elizabeth Arram,Ahmed F. Shakarchi,Michalis Georgiou,Michel Michaelides
标识
DOI:10.1136/bjo-2022-321790
摘要
Combined vision and hearing loss, also known as dual sensory impairment, can occur in several genetic conditions, including ciliopathies such as Usher and Bardet-Biedl syndrome, mitochondrial DNA disorders and systemic diseases, such as CHARGE, Stickler, Waardenburg, Alport and Alstrom syndrome. The retinal phenotype may point to the diagnosis of such disorders. Herein, we aim to provide a comprehensive review of the molecular genetics and clinical features of the most common non-chromosomal inherited disorders to cause dual sensory impairment.
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