Peripapillary Pachychoroid Syndrome (PPS): Diagnosing and Treating a Rare Entity

Abstract

Two cases with peripapillary pachychoroid syndrome (PPS) along with the challenges concerning correct diagnosis and treatment are presented. In the first case, the patient presented with painless unilateral gradual visual loss. Fundoscopy and optical coherence tomography (OCT) revealed cystoid macular edema (CME) in the left eye (LE), extending from the temporal optic disc margin towards the fovea, with no additional findings. Enhanced-depth imaging- (EDI-) OCT provided additional information and increased choroidal thickness nasally to the macula and pachyvessels in the outer choroidal layer, findings supportive of PPS. Photodynamic therapy (PDT) was applied at the leakage sites. Two months later, CME and subretinal fluid (SRF) had resolved, and VA had significantly improved. In the second case, a patient presented with reduced vision and metamorphopsia bilaterally over the previous 5 days. Fundoscopy revealed CME in both eyes. OCT confirmed the presence of CME in the papillomacular area in the right eye; similarly, CME was recorded in the macula of the LE with SRF located subfoveally. EDI-OCT showed increased choroidal thickness in both eyes. Treatment was administered, originally with dorzolamide eye drops along with eplerenone tablets, and then dexamethasone eye drops that eventually led to significant anatomic and functional improvement. It is important for ophthalmologists to be able to recognize the unique clinical entity of PPS, as its resemblance to disorders with similar features may lead to misdiagnoses and unnecessary, or even incorrect, interventions.

Pachychoroid Spectrum Disorders: An Updated Review

“…[ 3 , 56 ] The disease tends to occur in elderly males [ 1 , 56 , 57 , 58 , 59 ] and may present bilaterally. [ 3 , 56 ][ 60 ] Patients with this condition may also have other features of PDS, such as CVH, pachyvessels, pigment epitheliopathy, serous PEDs, and hyperfluorescence in the peripapillary region [Figure 4]. [ 3 , 41 ] PPS also exhibits choroidal folds, smaller cup-to-disk ratios, and mild disk leakage on late FA.…”

“…[ 55 , 56 ] Some have proposed that fluid from the nasal choroid may leak into the retinal space via membrane defects in the external limiting membrane (ELM), [ 55 ] while others purport that the peripapillary fluid pocket signifies the fluid entry site from the choroidal vasculature into the retina. [ 60 ] Recent evidence has led authors to theorize that anastomotic connections may also play a role in PPS pathogenesis. [ 43 , 55 ] Peripapillary anastomoses, in combination with the lack of RPE around the optic nerve head, may allow for the direct transmission of choroidal hydrostatic pressure to the inner retinal layers in this region.…”

“…Recent cases have resolved spontaneously [ 55 ] or with PDT laser. [ 60 ] A case of a bilateral PPS, initially treated with dorzolamide eye drops and eplerenone tablets, ultimately achieved retinal fluid resolution and visual acuity improvement after treatment with dexamethasone drops. [ 60 ] In both Bouzika cases, visual acuity was significantly affected, making treatment a necessity over the observation only modality suggested by other authors.…”