Tag: Clinical phenotype

Current research status of retinal ciliopathy

Authors: Fan Xue, Rong Weining Corresponding author: Rong Weining, Email: moc.621624gniniewgnor Published:2026-07-10 DOI: 10.3760/cma.j.cn115989-20230731-00054 ABSTRACT  Cilia widely exist in most cell types of the human body, and the dysfunction of cilia can affect various organs. The outer segment of the photoreceptor is a kind of highly differentiated primary sensory cilium, and its structure and function […]

Genetic testing and clinical phenotypic analysis of familial vitreous amyloidosis in two Han Chinese families

Authors: Zheng Wei,  Li Haibo,  Zhang Xueyong,  Zhou Xuezhi,  Chen Yuanyuan,  Mao Junfeng DOI: 10.3760/cma.j.cn115989-20190721-00318 Published 2021-08-10 Cite asChin J Exp Ophthalmol, 2021, 39(8): 714-718. Abstract                              [View PDF] [Read Full Text] Objective To investigate the clinical characteristics of two Han families with familial vitreous amyloidosis […]