Abstract
Purpose:
Pseudoxanthoma elasticum (PXE) is a rare multisytem disorder associated with characteristic fundus alterations including angioid streaks, peau d’orange, peripheral chorioretinal atrophy and secondary choroidal neovascularisations (CNV) in the macular region. So far little is known on alterations of the choroid in this disease. The purpose of this study was to determine and quantify changes of the choroid in patients with PXE.
Methods:
We investigated 70 eyes from 35 patients in whom the diagnosis of PXE was based on ophthalmologic examination, skin biopsy and/or genetic testing. 22 eyes of 11 probands without any eye disease served as a control group. Eyes with PXE were subdivided into 4 groups: Eyes with angioid streaks only (group 1), eyes with secondary CNV (group 2), eyes with subretinal fluid without CNV (group 3) and eyes with progressive chorioretinal atrophy without CNV (group 4). Choroidal thickness was measured using enhanced depth imaging (EDI) optical coherence tomography (OCT) (Spectralis, Heidelberg Engineering).
Results:
All 5 groups showed no significant differences with regard to age and refractive error. Compared to the control group (315.2µm ± 12.3; mean ± SEM), mean subfoveal choroidal thickness in eyes with PXE was significantly reduced within all groups (group 1: 224.4µm ± 23.4, p<0.001; group 2: 177.7µm ± 17.3, p<0.001; group 3: 211.3µm ± 19.2, p<0.001; group 4: 113.8µm ± 12.6, p<0.001). The difference between control eyes and eyes of PXE patients was most pronounced within the nasal half of horizontal scans. To the temporal half all groups showed an approximation to the level of the control eyes, which is in line with the characteristic centrifugal disease spread at the ocular fundus. Within the PXE groups eyes with angioid streaks only (group 1) showed the least reduction of choroidal thickness, while it was most pronounced within group 4.
Conclusions:
Choroidal thickness in eyes affected by PXE was significantly thinner compared to control eyes. Complications such as CNV, subretinal fluid or progressive chorioretinal atrophy were associated with an increased thinning of the choroid indicating a potential important pathogenetic and prognostic role for patients suffering from PXE. Choroidal thickness measurement might serve as an easily noninvassively obtainable parameter to monitor disease progression as well as the effect of potential future therapies.
Keywords: 452 choroid •
550 imaging/image analysis: clinical