A Natural History Study of
OCT
RP2
X-linked retinitis pigmentosa
genetic eye disease
inherited retinal diseases
natural history
optical coherence tomography
retinitis pigmentosa
Journal
Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588
Informations de publication
Date de publication:
22 Nov 2022
22 Nov 2022
Historique:
received:
27
09
2022
revised:
10
11
2022
accepted:
18
11
2022
entrez:
11
12
2022
pubmed:
12
12
2022
medline:
12
12
2022
Statut:
epublish
Résumé
X-linked retinitis pigmentosa (RP) is a severe form of RP, often with early macular involvement. This study aimed to characterise the natural history of patients with a diagnosis of X-linked RP due to RP2 mutations. Clinical details, best-corrected visual acuity (BCVA) and multimodal retinal imaging were retrospectively collected from patients with RP2 variants from Moorfields Eye Hospital (London, UK). Measures of the ellipsoid-zone (EZ) width, central retinal thickness (CRT), and thickness of the photoreceptor and retinal pigment epithelium complex (PR+RPE, taken between the external limiting membrane and RPE) were extracted from spectral-domain optical coherence tomography (SD-OCT) scans. A total of 47 affected males (median baseline age: 20 years, IQR: 12.5−36.5) were included, and 41 had two or more visits (median follow-up: 8.0 years, IQR: 3.2−14.5). A total of 24 RP2 variants were identified, 13 of which were novel. BCVA dropped from 0.66 LogMAR at baseline (IQR, 0.35−1.4) to 1.3 LogMAR at the most recent visit (IQR: 0.6−1.4). SD-OCT revealed a prevalent outer retinal atrophy (n = 23/35, 65.7%), and measurable EZ width at baseline in 34.3% of patients (n = 12). Age significantly affected all quantitative measures (p < 0.001) except EZ width (p = 0.58), with exponential decays of 46−49% and 12.6−33.9% per decade for BCVA and SD-OCT measures, respectively. RP2 patients exhibited rapid progression to outer retina atrophy and early macular involvement with substantial vision loss by age 30−40.
Identifiants
pubmed: 36498452
pii: jcm11236877
doi: 10.3390/jcm11236877
pmc: PMC9738434
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : PTC Therapeutics Inc
ID : NA
Organisme : Wellcome Trust
ID : 205174/Z/16/Z
Pays : United Kingdom
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