Natural history and clinical biomarkers of progression in X-linked retinitis pigmentosa: a systematic review.
X-linked
clinical biomarkers
electrophysiology
fundus autofluorescence
natural history
optical coherence tomography
perimetry
retinitis pigmentosa
visual acuity
Journal
Acta ophthalmologica
ISSN: 1755-3768
Titre abrégé: Acta Ophthalmol
Pays: England
ID NLM: 101468102
Informations de publication
Date de publication:
Aug 2021
Aug 2021
Historique:
revised:
11
09
2020
received:
09
01
2020
accepted:
11
10
2020
pubmed:
2
12
2020
medline:
15
12
2021
entrez:
1
12
2020
Statut:
ppublish
Résumé
X-linked retinitis pigmentosa (XLRP) accounts for a significant proportion of certifiable blindness in working-age adults. The objectives of this study were to: (1) synthesize the best available evidence regarding the natural history of disease progression and (2) identify the best current clinical biomarkers for monitoring disease progression, which will be important in planned gene therapy trials for this condition. Patient population: XLRP affected males. Main outcomes: A systematic review of the literature was undertaken with data sought on overall annual progression for clinical biomarkers using optical coherence tomography (OCT), fundus autofluorescence (FAF), visual acuity, electroretinography and visual fields. To assess which outcome was best for monitoring progression, data on reliability, interocular correlation and structure-function correlation were extracted. A total of 17 studies met the inclusion criteria. Studies estimated progression at between 4% to 19% per year with longitudinal data. Where an overall model was produced with cross-sectional data, the trend was usually best fit by a logarithmic function with an annual exponential decline rate between 4.7% and 8.0%. The evidence suggested the ellipsoid zone (EZ) width on OCT and outer ring area (ORA) on FAF as the most useful biomarkers having excellent interocular symmetry, reproducibility and functional correlation. Using different clinical biomarkers, XLRP progresses at a rate of 4 to 19% per year. Ellipsoid zone (EZ) width and ORA are the most robust biomarkers with the potential to be used in trials where one eye serves as a control for the other.
Substances chimiques
Biomarkers
0
Eye Proteins
0
Types de publication
Journal Article
Systematic Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
499-510Subventions
Organisme : NHMRC
ID : APP1116360
Organisme : NHMRC
ID : APP1099165
Organisme : NHMRC
ID : APP1109056
Organisme : Sydney Eye Hospital Foundation support
Informations de copyright
© 2020 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.
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