Associated Papers
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ et al.
Bmc Medical Genomics, 2021
33691693 (PubMed )
Supplement: 12920_2021_874_MOESM2_ESM.xlsx › Sheet1
Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy.
Wang DD et al.
Investigative Ophthalmology & Visual Science, 2020
32176261 (PubMed )
Supplement: iovs-61-3-10_s002.xlsx › Sheet_1
Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake Disease): East Asia Occult Macular Dystrophy Studies Report Number 1.
Fujinami K et al.
Ophthalmology, 2019
Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family.
Qi YH et al.
Frontiers in Genetics, 2017
Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy.
Fujinami K et al.
Investigative Ophthalmology & Visual Science, 2016
Multimodal Approach to Monitoring and Investigating Cone Structure and Function in an Inherited Macular Dystrophy.
Ziccardi L et al.
American Journal of Ophthalmology, 2015
Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1 mutation (p.S1199P).
Takahashi H et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2014
Clinical and genetic characteristics of Korean occult macular dystrophy patients.
Ahn SJ et al.
Investigative Ophthalmology & Visual Science, 2013
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