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
Clinical features and molecular mechanisms of RP1L1 variants causing occult macular dystrophy.
Pan Y et al.
Hgg Advances, 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
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
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
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
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
Dominant cystoid macular dystrophy associated with mutations in the RP1L1 gene.
Fu Y et al.
International Journal of Ophthalmology, 2019
Parafoveal Photoreceptor Abnormalities in Asymptomatic Patients With RP1L1 Mutations in Families With Occult Macular Dystrophy.
Kato Y et al.
Investigative Ophthalmology & Visual Science, 2017
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 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
Cone dystrophy in patient with homozygous RP1L1 mutation.
Kikuchi S et al.
Biomed Research International, 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
A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms.
Kabuto T et al.
Molecular Vision, 2012