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Longitudinal Changes of Retinal Structure in Molecularly Confirmed C1QTNF5 Patients With Late-Onset Retinal Degeneration

Cheloni, R; Venkatesh, A; Rodriguez-Martinez, AC; Moosajee, M; (2023) Longitudinal Changes of Retinal Structure in Molecularly Confirmed C1QTNF5 Patients With Late-Onset Retinal Degeneration. Translational Vision Science and Technology , 12 (12) , Article 14. 10.1167/tvst.12.12.14. Green open access

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Abstract

Purpose: The purpose of this study was to present our findings on the natural history of late-onset retinal degeneration (LORD) in patients with molecularly confirmed C1QTNF5 heterozygous pathogenic variants and assess suitability of retinal structure parameters for disease monitoring. Methods: Sixteen patients with C1QTNF5-LORD were retrospectively identified from Moorfields Eye Hospital, UK. Fundus autofluorescence (FAF), optical coherence tomography (OCT) scans, and best-corrected visual acuity (BCVA) were collected. Area of atrophy (AA) was manually drawn in FAF images. Ellipsoid zone (EZ) width and foveal retinal thickness of the whole retina and outer retina were extracted from OCT scans. Agerelated changes were tested with linear-mixed models. Results: Patients had median age of 62.3 years (interquartile range [IQR] = 58.8– 65.4 years) at baseline, and median follow-up of 5.1 years (IQR = 2.6–7.6 years). AA, EZ width, and retinal thickness parameters remained unchanged until age 50 years, but showed significant change with age thereafter (all P < 0.0001). AA and EZ width progressed rapidly (dynamic range normalized rates = 4.3–4.5%/year) from age 53.9 and 50.8 years (estimated inflection points), respectively. Retinal thickness parameters showed slower progression rates (range = 1.6–2.5%/year) from age 60 to 62.3. BCVA (median = 0.3 LogMAR, IQR = 0.0–1.0 at baseline) showed a rapid decline (3.3%) from age 70 years. Findings from patients with earlier disease showed FAF atrophy manifests in the temporal retina initially, and then progresses nasally. Conclusions: Patients with LORD remained asymptomatic until age 50 years, before suffering rapid outer retinal degeneration. EZ width and AA showed rapid progression and high interocular correlation, representing promising outcome metrics. Clinical measures also capturing the temporal retina may be preferable, enabling earlier detection and better disease monitoring. Translational Relevance: Area of atrophy in FAF images and OCT-measured EZ width represent promising outcome metrics for disease monitoring in patients with C1QTNF5LORD.

Type: Article
Title: Longitudinal Changes of Retinal Structure in Molecularly Confirmed C1QTNF5 Patients With Late-Onset Retinal Degeneration
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1167/tvst.12.12.14
Publisher version: http://dx.doi.org/10.1167/tvst.12.12.14
Language: English
Additional information: This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third-party material in this article are included in the Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
Keywords: Humans, Middle Aged, Aged, Retinal Degeneration, Retrospective Studies, Visual Acuity, Fluorescein Angiography, Retina, Atrophy, Tomography, Optical Coherence, Collagen
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/10184847
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