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Late-Onset Retinal Degeneration: Clinical Features and C1QTNF5/CTRP5 Function
Ana Alonso-Carriazo Fernández1, Amanda-Jayne F Carr2
1UCL Institute of Ophthalmology, University College London, London, UK. ana.fernandez.18@ucl.ac.uk.
Advances in Experimental Medicine and Biology
|February 10, 2025
Summary
Late-onset retinal degeneration (L-ORD) is a rare inherited eye disease caused by C1QTNF5 gene mutations. This review covers L-ORD clinical findings, management, and the C1QTNF5 gene
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Late-onset retinal degeneration (L-ORD) is a rare autosomal dominant macular disease.
- Mutations in the C1QTNF5 gene (encoding CTRP5) are the primary cause of L-ORD.
- Clinical presentation includes yellow-white punctate lesions and sub-retinal pigment epithelium deposits.
Purpose of the Study:
- To review the clinical findings and management strategies for L-ORD.
- To consolidate current knowledge on the C1QTNF5 gene, its protein structure, and function.
- To explore the molecular mechanisms linking C1QTNF5 mutations to L-ORD pathogenesis.
Main Methods:
- Comprehensive literature review of in silico, in vitro, and in vivo studies.
- Analysis of clinical data and patient case reports.
- Examination of genetic and protein structure-function relationships.
Main Results:
- Detailed summary of L-ORD clinical manifestations and diagnostic criteria.
- Elucidation of C1QTNF5 gene variations and their impact on CTRP5 protein.
- Overview of ongoing research into L-ORD molecular pathology.
Conclusions:
- C1QTNF5 mutations are central to L-ORD etiology.
- Understanding CTRP5 function is crucial for developing L-ORD therapies.
- Further research is needed to refine clinical management and therapeutic approaches for L-ORD.
