Associated Papers
Hyperactive microtubule binding of RP1L1 (R45W) underlies retinal degeneration and is suppressed by glycerol.
Ye Y et al.
Journal of Cell Science, 2026
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
Protocol for differentiating patient-derived iPSCs into photoreceptor-like cells.
Pan Y et al.
Star Protocols, 2025
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
Spectrum of inherited eye disorders at Hong Kong Children's Hospital: insights into the local genetic landscape and experience with ocular genetic services.
Cheng SSW et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2025
Clinical features and molecular mechanisms of RP1L1 variants causing occult macular dystrophy.
Pan Y et al.
Hgg Advances, 2025
Real-World Engagement with Free Genotyping by Patients with Inherited Retinal Disease in a Single Private Retinal Centre in Australia.
Fry LE et al.
Seminars in Ophthalmology, 2025
Clinical Applications of the Cone Contrast Test in Ophthalmology and Neurology.
Raju P et al.
Journal of Clinical Medicine, 2025
Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy.
Antropoli A et al.
Investigative Ophthalmology & Visual Science, 2025
Multidimensional Functional Phenotyping Based on Photoreceptor-Directed Temporal Contrast Sensitivity Defects in Inherited Retinal Diseases.
Huchzermeyer C et al.
Investigative Ophthalmology & Visual Science, 2025
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms.
Holtes LK et al.
Progress in Retinal and Eye Research, 2025
Occult Macular Dystrophy.
Hartung KJ et al.
Advances in Experimental Medicine and Biology, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Varied clinical presentations of RP1L1 variants in Chinese patients: a study of occult macular dystrophy and vitelliform macular dystrophy.
Liu X et al.
Bmc Ophthalmology, 2024
Macular dystrophy with associated retinitis pigmentosa-1 like 1 genetic mutation.
Nano E et al.
Clinical & Experimental Optometry, 2024
Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.
Abu Elasal M et al.
Genes, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
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
New recessive compound heterozygous variants of RP1L1 in RP1L1 maculopathy.
Cao WC et al.
International Journal of Ophthalmology, 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
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M et al.
Genes, 2023
Photoreceptor-Specific Temporal Contrast Sensitivities in RP1L1-Associated Occult Macular Dystrophy.
Huchzermeyer C et al.
Investigative Ophthalmology & Visual Science, 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
Occult Macular Dystrophy: a case report and major review.
Luoma-Overstreet G et al.
Ophthalmic Genetics, 2022
An extended phenotype of RP1L1 maculopathy - case report.
Manayath GJ et al.
Ophthalmic Genetics, 2022
Rare occult macular dystrophy with a pathogenic variant in the RP1L1 gene in a patient of Swiss descent.
Zabek O et al.
American Journal of Ophthalmology Case Reports, 2022
Multimodal imaging evaluation of occult macular dystrophy associated with a novel RP1L1 variant.
Bianco L et al.
American Journal of Ophthalmology Case Reports, 2022
RP1L1 rs3924612 gene polymorphism and RP1L1 protein associations among patients with early age-related macular degeneration.
Daniute G et al.
Ophthalmic Genetics, 2022
Stepwise ABC system for classification of any type of genetic variant.
Houge G et al.
European Journal of Human Genetics : Ejhg, 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
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies.
Song F et al.
Genes, 2021
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.
Chen TC et al.
Npj Genomic Medicine, 2021