Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake disease); EAOMD Report No.1.
Ophthalmology(2019)
摘要
There is a large spectrum of clinical findings in Miyake disease, including various onset of disease and VA; while the characteristic photoreceptor microstructures were shared in most cases. Two hot spots including amino acid numbers 45 and 1196-1201 in the RP1L1 gene were confirmed in the East Asian population.
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关键词
D,ERG,EZ,IZ,logMAR,OMD,VA
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