Associated Papers
Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy.
Antropoli A et al.
Investigative Ophthalmology & Visual Science, 2025
Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4.
Fujinami-Yokokawa Y et al.
Investigative Ophthalmology & Visual Science, 2024
38265784 (PubMed )
Supplement: iovs-65-1-41_s005.pdf
Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5.
Fujinami-Yokokawa Y et al.
Genes, 2023
A variant in the RP1L1 gene in a family with occult macular dystrophy in a predicted intrinsically disordered region.
Hiraoka M et al.
Ophthalmic Genetics, 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
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
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
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