Serous maculopathy with absence of retinal pigment epithelium (SMARPE)

A 68-year-old hyperopic woman (+4 dioptres) did not have visual complaints of her right eye at presentation in our hospital, after a referral from an ophthalmologist in a peripheral hospital. Visual acuity in this eye was 20/30 and had been stable for at least 3 years. In her right eye, a central well-delineated atrophic area of absent retinal pigment epithelium (RPE) was seen on fundoscopy (Fig. 1A). Through this window defect, choroidal vessels were visible, which were surrounded by RPE alterations, without any drusen. Only a few small hard/cuticular drusen were visible outside this area, adjacent to the optic disc and temporally to the macular laesion. The foveal optical coherence tomography (OCT) scan in this eye (Fig. 1O) showed subretinal fluid (SRF) and a relatively large area of absent RPE, with a horizontal subfoveal diameter of 1728 μm. In the atrophic area on fundoscopy, mainly the large choroidal vessels were visible. However, on OCT the subfoveal choroidal thickness was still 377 μm, and small choroidal vessels could still be detected, although it was not possible to make a distinction between choriocapillaris and small Sattler’s layer vessels. Moreover, no SRF was present in the peripheral retina. Choroidal folds were present along the superior and inferior temporal vascular arcades in both eyes. On fundoscopy in the left eye, atrophic RPE changes, subretinal fibrosis and hard exudates were present. In the left eye, vision was 20/150 at the first visit to our hospital. This patient was previously diagnosed with a long-standing therapy-resistant choroidal neovascularisation (CNV; also known as a macular neovascularisation) in the left eye, possibly due to age-related macular degeneration (AMD). However, no drusen were observed at the first examination and several follow-up visits. She had previously received 3 intravitreal injections with the anti-vascular endothelial growth factor (VEGF) receptor medication bevacizumab in the left eye, without effect, after which no further therapy was performed. Fluorescein angiography (FA) of the right eye (Fig. 1C–E) revealed an early hyperfluorescent RPE window defect due to the absence of the RPE, with fluorescein pooling within the serous SRF collection in the late phase. Densely packed choroidal vessels were seen on indocyanine green angiography (ICGA; Fig. 1F–H), without hyperfluorescent changes that are characteristic for instance for central serous chorioretinopathy. In this patient, no effect of intravitreal injections of several types of antiVEGF medication (bevacizumab (3 injections), aflibercept (3 injections) and ranibizumab (5 injections) at monthly intervals) on SRF in the right eye was observed. Moreover, ICGAguided half-dose photodynamic therapy also did not have an effect on the SRF accumulation, after which a conservative approach with regular followup was chosen. Over time, the patient received follow-up visits at an interval of 4 to 6 months. At the most recent visit to our outpatient clinic, which was 7 years after the first visit, the visual acuity in the right eye had decreased only moderately, to 20/50, whereas the foveal OCT scan had not changed significantly over time (Fig. 1Q and R).