RT Journal Article
SR Electronic
T1 Inner retinal degeneration associated with optic nerve head drusen in pseudoxanthoma elasticum
JF British Journal of Ophthalmology
JO Br J Ophthalmol
FD BMJ Publishing Group Ltd.
SP 570
OP 575
DO 10.1136/bjophthalmol-2021-320088
VO 107
IS 4
A1 Kristina Hess
A1 Kristin Raming
A1 Peter Charbel Issa
A1 Philipp Herrmann
A1 Frank G Holz
A1 Maximilian Pfau
YR 2023
UL http://bjo.bmj.com/content/107/4/570.abstract
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 µm/year, p<0.001), the diagnosis of PXE (−2.03 µm, p=0.005) and an interaction term between age and the presence of ONHD (−0.20 µm/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.Data are available upon reasonable request.