PMID- 36498452
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230308
IS  - 2077-0383 (Print)
IS  - 2077-0383 (Electronic)
IS  - 2077-0383 (Linking)
VI  - 11
IP  - 23
DP  - 2022 Nov 22
TI  - A Natural History Study of RP2-Related Retinopathy.
LID - 10.3390/jcm11236877 [doi]
LID - 6877
AB  - 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.
FAU - Cheloni, Riccardo
AU  - Cheloni R
AUID- ORCID: 0000-0002-6871-9498
AD  - UCL Institute of Ophthalmology, London EC1V 9EL, UK.
AD  - Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.
FAU - Jackson, Daniel
AU  - Jackson D
AD  - UCL Institute of Ophthalmology, London EC1V 9EL, UK.
AD  - Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.
FAU - Moosajee, Mariya
AU  - Moosajee M
AUID- ORCID: 0000-0003-1688-5360
AD  - UCL Institute of Ophthalmology, London EC1V 9EL, UK.
AD  - Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.
AD  - The Francis Crick Institute, London NW1 1AT, UK.
AD  - Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, 
      UK.
LA  - eng
GR  - NA/PTC Therapeutics Inc/
GR  - 205174/Z/16/Z/WT_/Wellcome Trust/United Kingdom
PT  - Journal Article
DEP - 20221122
PL  - Switzerland
TA  - J Clin Med
JT  - Journal of clinical medicine
JID - 101606588
PMC - PMC9738434
OTO - NOTNLM
OT  - OCT
OT  - RP2
OT  - X-linked retinitis pigmentosa
OT  - genetic eye disease
OT  - inherited retinal diseases
OT  - natural history
OT  - optical coherence tomography
OT  - retinitis pigmentosa
COIS- The authors have no conflict of interest to declare.
EDAT- 2022/12/12 06:00
MHDA- 2022/12/12 06:01
PMCR- 2022/11/22
CRDT- 2022/12/11 01:13
PHST- 2022/09/27 00:00 [received]
PHST- 2022/11/10 00:00 [revised]
PHST- 2022/11/18 00:00 [accepted]
PHST- 2022/12/11 01:13 [entrez]
PHST- 2022/12/12 06:00 [pubmed]
PHST- 2022/12/12 06:01 [medline]
PHST- 2022/11/22 00:00 [pmc-release]
AID - jcm11236877 [pii]
AID - jcm-11-06877 [pii]
AID - 10.3390/jcm11236877 [doi]
PST - epublish
SO  - J Clin Med. 2022 Nov 22;11(23):6877. doi: 10.3390/jcm11236877.