PMID- 34670750
OWN - NLM
STAT- MEDLINE
DCOM- 20230324
LR  - 20230328
IS  - 1468-2079 (Electronic)
IS  - 0007-1161 (Linking)
VI  - 107
IP  - 4
DP  - 2023 Apr
TI  - Inner retinal degeneration associated with optic nerve head drusen in 
      pseudoxanthoma elasticum.
PG  - 570-575
LID - 10.1136/bjophthalmol-2021-320088 [doi]
AB  - BACKGROUND/AIMS: To determine the association of age, presence of optic nerve 
      head drusen (ONHD) and number of previous intravitreal anti-vascular endothelial 
      growth factor (anti-VEGF) injections with inner retinal layer thicknesses in 
      patients with pseudoxanthoma elasticum (PXE). METHODS: In this retrospective 
      case-control study, longitudinal spectral-domain optical coherence tomography 
      imaging data from patients with PXE were compared with controls. A custom 
      deep-learning-based segmentation algorithm was trained and validated to quantify 
      the retinal nerve fibre layer (RNFL) and ganglion cell layer (GCL). The 
      association of age, number of anti-VEGF injections and ONHD with the RNFL and GCL 
      thickness in the outer ETDRS subfields as dependent variables was investigated 
      using mixed model regression. RESULTS: Fourty-eight eyes of 30 patients with PXE 
      were compared with 100 healthy eyes. The mean age was 52.5+/-12.9 years (range 
      21.3-68.2) for patients and 54.2+/-18.7 years (range 18.0-84.5) for controls. In 
      patients, ONHD were visible in 15 eyes from 13 patients and 31 eyes had received 
      anti-VEGF injections. In the multivariable analysis, age (-0.10 microm/year, 
      p<0.001), the diagnosis of PXE (-2.03 microm, p=0.005) and an interaction term 
      between age and the presence of ONHD (-0.20 microm/year, p=0.001) were significantly 
      associated with the GCL thickness. Including the number of intravitreal 
      injections did not improve the model fit. The RNFL thickness was not 
      significantly associated with any of these parameters. CONCLUSIONS: This study 
      demonstrates a significant association of ageing and ONHD with GCL thinning in 
      patients with PXE, but not with the number of anti-VEGF injections. Given the 
      severity of inner retinal degeneration in PXE, a clinical trial investigating 
      neuroprotective therapy warrants consideration.
CI  - (c) Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and 
      permissions. Published by BMJ.
FAU - Hess, Kristina
AU  - Hess K
AUID- ORCID: 0000-0002-3642-3502
AD  - Department of Ophthalmology, University Hospital Bonn, Bonn, Germany 
      kristina.hess@ukbonn.de.
FAU - Raming, Kristin
AU  - Raming K
AD  - Department of Ophthalmology, University Hospital Bonn, Bonn, Germany.
FAU - Charbel Issa, Peter
AU  - Charbel Issa P
AD  - Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, 
      UK.
AD  - Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, 
      University of Oxford, Oxford, UK.
FAU - Herrmann, Philipp
AU  - Herrmann P
AD  - Department of Ophthalmology, University Hospital Bonn, Bonn, Germany.
FAU - Holz, Frank G
AU  - Holz FG
AD  - Department of Ophthalmology, University Hospital Bonn, Bonn, Germany.
FAU - Pfau, Maximilian
AU  - Pfau M
AD  - Department of Ophthalmology, University Hospital Bonn, Bonn, Germany.
AD  - Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National 
      Institutes of Health (NIH), Bethesda, Maryland, USA.
LA  - eng
GR  - DH_/Department of Health/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20211020
PL  - England
TA  - Br J Ophthalmol
JT  - The British journal of ophthalmology
JID - 0421041
SB  - IM
MH  - Humans
MH  - Young Adult
MH  - Adult
MH  - Middle Aged
MH  - Aged
MH  - *Optic Disk
MH  - Retinal Ganglion Cells
MH  - *Pseudoxanthoma Elasticum/complications/diagnosis
MH  - *Retinal Degeneration/complications
MH  - Retrospective Studies
MH  - Case-Control Studies
MH  - Nerve Fibers
MH  - *Optic Disk Drusen/complications/diagnosis
MH  - Tomography, Optical Coherence
OTO - NOTNLM
OT  - dystrophy
OT  - genetics
OT  - optic nerve
OT  - retina
COIS- Competing interests: The Department of Ophthalmology, University of Bonn, 
      received technical support from Heidelberg Engineering, Heidelberg, Germany and 
      Carl Zeiss Meditec, Jena, Germany (KH, KR, PH, FGH, MP).
EDAT- 2021/10/22 06:00
MHDA- 2023/03/25 06:00
CRDT- 2021/10/21 05:40
PHST- 2021/07/14 00:00 [received]
PHST- 2021/09/30 00:00 [accepted]
PHST- 2021/10/22 06:00 [pubmed]
PHST- 2023/03/25 06:00 [medline]
PHST- 2021/10/21 05:40 [entrez]
AID - bjophthalmol-2021-320088 [pii]
AID - 10.1136/bjophthalmol-2021-320088 [doi]
PST - ppublish
SO  - Br J Ophthalmol. 2023 Apr;107(4):570-575. doi: 10.1136/bjophthalmol-2021-320088. 
      Epub 2021 Oct 20.