PMID- 30524489
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20191120
IS  - 0165-8107 (Print)
IS  - 1744-506X (Electronic)
IS  - 0165-8107 (Linking)
VI  - 42
IP  - 6
DP  - 2018 Dec
TI  - Macular and Retinal Nerve Fibre Layer Thinning in Xeroderma Pigmentosum: A 
      Cross-sectional Study.
PG  - 356-366
LID - 10.1080/01658107.2018.1452038 [doi]
AB  - The purpose of this study was to evaluate retinal thickness in different 
      Xeroderma Pigmentosum (XP) complementation groups using spectral-domain optical 
      coherence tomography (SD-OCT). This was a cross-sectional pilot study of 40 
      patients with XP. All patients had healthy-looking retinae and optic nerves on 
      slit lamp biomicroscopy, and subtle or no neurological deficits. Patients were 
      divided into two groups based on the known tendency for neurodegeneration 
      associated with certain XP complementation groups. A third control group was 
      obtained from a normative database. Using SD-OCT, we compared peripapillary 
      retinal nerve fibre layer (pRNFL) and macular thickness between the groups. XP 
      patients with a known tendency for neurodegeneration were found to have a 
      statistically significant reduction in both pRNFL (p < 0.01) and macular 
      thickness (p < 0.001) compared with healthy controls. In contrast, there was no 
      statistically significant difference between pRNFL and macular thickness in XP 
      patients not expected to develop neurodegeneration compared to the same control 
      group. When both XP groups were compared, a statistically significant reduction 
      in total pRNFL (p = 0.02) and macular thickness (p = 0.002) was found in XP 
      patients predisposed to neurodegeneration. Our results suggest that pRNFL and 
      macular thickness are reduced in XP patients with a known tendency for 
      neurodegeneration, even before any marked neurological deficits become manifest. 
      These findings demonstrate the potential role of retinal thickness as an anatomic 
      biomarker and prognostic indicator for XP neurodegeneration.
FAU - Gruener, Anna M
AU  - Gruener AM
AUID- ORCID: 0000-0002-2296-3989
AD  - Department of Ophthalmology, St Thomas' Hospital, Guy's and St Thomas' NHS 
      Foundation Trust, London, United Kingdom.
FAU - Morley, Ana M S
AU  - Morley AMS
AD  - Department of Ophthalmology, St Thomas' Hospital, Guy's and St Thomas' NHS 
      Foundation Trust, London, United Kingdom.
AD  - Nationally Commissioned Xeroderma Pigmentosum Service, Guy's and St Thomas' NHS 
      Foundation Trust, St Thomas' Hospital, London, United Kingdom.
LA  - eng
PT  - Journal Article
DEP - 20180522
PL  - England
TA  - Neuroophthalmology
JT  - Neuro-ophthalmology (Aeolus Press)
JID - 8408966
PMC - PMC6276955
OTO - NOTNLM
OT  - Macular Thinning
OT  - Optical Coherence Tomography
OT  - Retinal Nerve Fibre Layer Thinning
OT  - Xeroderma Pigmentosum
EDAT- 2018/12/14 06:00
MHDA- 2018/12/14 06:01
PMCR- 2019/05/22
CRDT- 2018/12/08 06:00
PHST- 2018/01/27 00:00 [received]
PHST- 2018/03/05 00:00 [revised]
PHST- 2018/03/10 00:00 [accepted]
PHST- 2018/12/08 06:00 [entrez]
PHST- 2018/12/14 06:00 [pubmed]
PHST- 2018/12/14 06:01 [medline]
PHST- 2019/05/22 00:00 [pmc-release]
AID - 1452038 [pii]
AID - 10.1080/01658107.2018.1452038 [doi]
PST - epublish
SO  - Neuroophthalmology. 2018 May 22;42(6):356-366. doi: 
      10.1080/01658107.2018.1452038. eCollection 2018 Dec.