Natural History of Visual Dysfunction in ABCA4 Retinopathy and Its Genetic Correlates.
Journal
American journal of ophthalmology
ISSN: 1879-1891
Titre abrégé: Am J Ophthalmol
Pays: United States
ID NLM: 0370500
Informations de publication
Date de publication:
09 2023
09 2023
Historique:
received:
13
02
2023
revised:
07
05
2023
accepted:
08
05
2023
pmc-release:
01
09
2024
medline:
18
8
2023
pubmed:
22
5
2023
entrez:
21
5
2023
Statut:
ppublish
Résumé
To systematically assess the ability to detect change and retest reliability for a panel of visual function assessments in ABCA4 retinopathy. Prospective natural history study (NCT01736293). Patients with at least 1 documented pathogenic ABCA4 variant and a clinical phenotype consistent with ABCA4 retinopathy were recruited from a tertiary referral center. Participants underwent longitudinal, multifaceted functional testing, including measures of function at fixation (best-corrected visual acuity, low-vision Cambridge Color Test), macular function (microperimetry), and retina-wide function (full-field electroretinography [ERG]). Two- and 5-year ability to detect change was determined based on the η A total of 134 eyes from 67 participants with a mean follow-up of 3.65 years were included. In the 2-year interval, the microperimetry-derived perilesional sensitivity (η
Identifiants
pubmed: 37211138
pii: S0002-9394(23)00206-4
doi: 10.1016/j.ajo.2023.05.014
pmc: PMC10524499
mid: NIHMS1904150
pii:
doi:
Substances chimiques
ABCA4 protein, human
0
ATP-Binding Cassette Transporters
0
Banques de données
ClinicalTrials.gov
['NCT01736293']
Types de publication
Journal Article
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
224-232Subventions
Organisme : Intramural NIH HHS
ID : ZIA EY000534
Pays : United States
Informations de copyright
Published by Elsevier Inc.
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