Associated Papers
Extensive macular atrophy with pseudodrusen-like appearance (EMAP) clinical characteristics, diagnostic criteria, and insights from allied inherited retinal diseases and age-related macular degeneration.
Antropoli A et al.
Progress in Retinal and Eye Research, 2025
Late-Onset Retinal Degeneration: Clinical Features and C1QTNF5/CTRP5 Function.
Fernández AA et al.
Advances in Experimental Medicine and Biology, 2025
An incipient late-onset retinal degeneration with a C1QTNF5 mutation: a case report with an 11-year follow-up.
Torrell-Belzach N et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2024
Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5.
Li RTH et al.
Investigative Ophthalmology & Visual Science, 2023
Distinct Phenotypic Consequences of Pathogenic Mutants Associated with Late-Onset Retinal Degeneration.
Xu L et al.
The American Journal of Pathology, 2023
Outer retinal corrugations in late-onset retinal degeneration: a diagnostic finding demonstrated with multimodal imaging.
Duncan HJ et al.
Bmj Open Ophthalmology, 2023
Anterior segment phenotypic changes in late-onset retinal degeneration with Ser163Arg mutation in CTRP5/C1QTNF5.
Lando L et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2023
Late-Onset Retinal Degeneration: Clinical Perspectives.
Lando L et al.
Clinical Ophthalmology (auckland, N.z.), 2022
AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration.
Miyagishima KJ et al.
Communications Biology, 2021
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene.
De Zaeytijd J et al.
Ophthalmic Genetics, 2021
Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant.
Kellner U et al.
International Journal of Molecular Sciences, 2021
Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration.
Borooah S et al.
Ophthalmic Genetics, 2018
Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration.
Stanton CM et al.
Scientific Reports, 2017
Macular neovascularization in inherited retinal diseases: A review.
Heath Jeffery RC et al.
Survey of Ophthalmology, 0