Associated Papers
Generation of an induced pluripotent stem cell (iPSC) line (IPSCi001-A), from a 40-year-old female patient with occult macular dystrophy carrying the c.133C > T mutation in the RP1L1 gene.
Wang AG et al.
Stem Cell Research, 2026
Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.
Lähteenoja L et al.
The British Journal of Ophthalmology, 2025
40571344 (PubMed )
Supplement: bjo-109-8-s002.xlsx › P_or_LP_variants_
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
Visual Field Characteristics in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report No. 3.
Ahn SJ et al.
Investigative Ophthalmology & Visual Science, 2022
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 Stages of Occult Macular Dystrophy Based on Optical Coherence Tomographic Findings.
Nakamura N et al.
Investigative Ophthalmology & Visual Science, 2019
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
Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.
Zobor D et al.
Investigative Ophthalmology & Visual Science, 2018
Parafoveal Photoreceptor Abnormalities in Asymptomatic Patients With RP1L1 Mutations in Families With Occult Macular Dystrophy.
Kato Y et al.
Investigative Ophthalmology & Visual Science, 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
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