Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Anterior segment phenotypic changes in late-onset retinal degeneration with Ser163Arg mutation in CTRP5/C1QTNF5.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Sept 2023

Lando Leonardo, Nguyen Anne Xuan-Lan, Li Randa Tsz Ha, Megaw Roly, Dhillon Baljean, Borooah Shyamanga

Abstract excerpt

PURPOSE: Late-onset retinal degeneration (L-ORD) is a rare retinal dystrophy with anterior segment (AS) abnormalities, including long anterior zonules (LAZ) and iris atrophy. This investigation evaluates AS changes in a L-ORD cohort. METHODS: Prospective, longitudinal study including L-ORD individuals (Ser163Arg) with ocular exam and standard slit-lamp photographs between 2011 and 2022. AS images were merged and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Atrophy
Share to Collagen

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Longitudinal Studies

Share to Mutation

Share to Retinal Degeneration

Source

Identifiers

PMID: 37043002
DOI: 10.1007/s00417-023-06041-0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Anterior segment phenotypic changes in late-onset retinal degeneration with Ser163Arg mutation in CTRP5/C1QTNF5.PMID 37043002Read ↗

Long anterior lens zonules in late-onset retinal degeneration (L-ORD).Semantic proximity Read ↗

Late-onset retinal degeneration caused by C1QTNF5 mutation: sub-retinal pigment epithelium deposits and visual consequences.Semantic proximity Read ↗

Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration).Semantic proximity Read ↗

Inherited Retinal Degenerations: Current Landscape and Knowledge GapsSemantic proximity Read ↗

Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.Semantic proximity Read ↗

Inherited retinal diseases: Therapeutics, clinical trials and end points—A reviewSemantic proximity Read ↗

Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene.Semantic proximity Read ↗

An incipient late-onset retinal degeneration with a C1QTNF5 mutation: a case report with an 11-year follow-up.Semantic proximity Read ↗

Inherited retinal degenerations: clinical phenotypes and emerging therapies.Semantic proximity Read ↗

Late-onset retinal macular degeneration: clinical insights into an inherited retinal degeneration.Semantic proximity Read ↗

Revisiting Retinal Degeneration Hallmarks: Insights from Molecular Markers and Therapy PerspectivesSemantic proximity Read ↗

Retinal Imaging Findings in Inherited Retinal DiseasesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.