Fernández, AAC;
Carr, AJF;
(2025)
Late-Onset Retinal Degeneration: Clinical Features and C1QTNF5/CTRP5 Function.
Advances in Experimental Medicine and Biology
, 1468
pp. 511-516.
10.1007/978-3-031-76550-6_83.
(In press).
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Abstract
Late-onset retinal degeneration (L-ORD) is a rare autosomal dominant inherited macular disease caused by mutations in C1QTNF5 (CTRP5). While pathophysiological features vary, patients often present yellow-white punctate lesions and sub-RPE deposits. Multiple in silico, in vitro and in vivo studies have investigated the molecular mechanisms by which C1QTNF5 mutations lead to L-ORD. This review summarises key clinical findings and clinical management of L-ORD and focuses on what is known about the C1QNTF5 gene, protein structure and function, in health and disease.
| Type: | Article |
|---|---|
| Title: | Late-Onset Retinal Degeneration: Clinical Features and C1QTNF5/CTRP5 Function |
| Location: | United States |
| DOI: | 10.1007/978-3-031-76550-6_83 |
| Publisher version: | https://doi.org/10.1007/978-3-031-76550-6_83 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher's terms and conditions. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10207330 |
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