Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches.
Journal
Eye (London, England)
ISSN: 1476-5454
Titre abrégé: Eye (Lond)
Pays: England
ID NLM: 8703986
Informations de publication
Date de publication:
Mar 2021
Mar 2021
Historique:
received:
08
02
2020
accepted:
13
05
2020
revised:
13
05
2020
pubmed:
30
5
2020
medline:
6
7
2021
entrez:
30
5
2020
Statut:
ppublish
Résumé
To investigate the retinal changes in choroideremia (CHM) patients to determine correlations between age, structure and function. Twenty-six eyes from 13 male CHM patients were included in this prospective longitudinal study. Participants were divided into <50-year (n = 8) and ≥50-year (n = 5) old groups. Patients were seen at baseline, 6-month, and 1-year visits. Optical coherence tomography (OCT), OCT angiography, and fundus autofluorescence were performed to measure central foveal (CFT) and subfoveal choroidal thickness (SCT), as well as areas of preserved choriocapillaris (CC), ellipsoid zone (EZ), and autofluorescence (PAF). Patients also underwent functional investigations including visual acuity (VA), contrast sensitivity (CS), colour testing, microperimetry, dark adaptometry, and handheld electroretinogram (ERG). Vision-related quality-of-life was assessed by using the NEI-VFQ-25 questionnaire. Over the 1-year follow-up period, progressive loss was detected in SCT, EZ, CC, PAF, and CFT. Those ≥50-years exhibited more structural and functional defects with SCT, EZ, CC, and PAF showing strong correlation with patient age (rho ≤ -0.47, p ≤ 0.02). CS and VA did not change over the year, but CS was significantly correlated with age (rho = -0.63, p = 0.001). Delayed to unmeasurable dark adaptation, decreased colour discrimination and no detectable ERG activity were observed in all patients. Minimal functional deterioration was observed over one year with a general trend of slower progression in the ≥50-years group. Quantitative structural parameters including SCT, CC, EZ, and PAF are most useful for disease monitoring in CHM. Extended follow-up studies are required to determine longitudinal functional changes.
Identifiants
pubmed: 32467628
doi: 10.1038/s41433-020-0974-1
pii: 10.1038/s41433-020-0974-1
pmc: PMC8027673
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
838-852Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 205174/Z/16/Z
Pays : United Kingdom
Organisme : Wellcome Trust (Wellcome)
ID : 205174/Z/16/Z
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