Associated Papers
Phenotype of bilateral EYS-associated occult macular dystrophies based on multimodal imaging.
Yi M et al.
Photodiagnosis and Photodynamic Therapy, 2024
Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients.
Ng TK et al.
Eye (london, England), 2022
A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.
Yuan Y et al.
Frontiers in Genetics, 2022
36159980 (PubMed )
Supplement: Table1.XLSX › SNP
Serum anti-recoverin antibodies is found in elderly patients with retinitis pigmentosa and cancer.
Sato T et al.
Acta Ophthalmologica, 2020
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
Dominant cystoid macular dystrophy associated with mutations in the RP1L1 gene.
Fu Y et al.
International Journal of Ophthalmology, 2019
Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene.
Piermarocchi S et al.
Molecular Medicine Reports, 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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