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Article

Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy.

Investigative ophthalmology & visual science - 9 Mar 2020

Wang Dan-Dan, Gao Feng-Juan, Li Jian-Kang, Chen Fang, Hu Fang-Yuan, Xu Ge-Zhi, Zhang Jian-Guo, Sun Hao-Xiang, Zhang Sheng-Hai, Xu Ping, Tian Guo-Hong, Wu Ji-Hong

Abstract excerpt

Purpose: To investigate the clinical and genetic characteristics of occult macular dystrophy (OMD) based on a Chinese patient cohort. Methods: Fifteen Chinese OMD patients from nine unrelated families underwent genetic testing, and all of them harbored a pathogenic RP1L1 variant. Comprehensive ophthalmic examinations were performed in nine probands, including spectral-domain optical coherence tomography (SD-OCT),...

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PMID: 32176261
DOI: 10.1167/iovs.61.3.10
PMCID: PMC7401461

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