Peripapillary Pachychoroid Syndrome
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Peripapillary Pachychoroid Syndrome (PPS) is a distinct PDS variant, in which peripapillary choroidal thickening is associated with nasal macular intraretinal and/or subretinal fluid and occasional disk edema. Recognition of PPS is important to distinguish it from disorders with overlapping features such as posterior uveitis and neuro-ophthalmologic conditions[1].
Disease
Peripapillary Pachychoroid Syndrome (PPS) has been recently identified as a distinct Pachychoroid Disease Spectrum (PDS) variant, in which pachychoroid features surround the optic nerve and are associated with the accumulation of intraretinal and/or subretinal fluid in the nasal macular region rather than the fovea, extending from the temporal margin of the optic disk , as well as with occasional optic nerve head edema in some eyes[1]. Associated clinical findings include peripapillary choroidal thickening choroidal thickening associated with Haller vessel dilation (pachyvessels) and overlying inner choroidal thinning, serous pigment epithelial detachment and choroidal hyperpermeability, all of which are indicative of a pachychoroid-driven entity, rather than a variant of uveal effusion syndrome (UES) as was suggested in a single-case report[1]. Most of the eyes have hyperopic refraction and short axial lengths[2] Other common features present in patients with PPS are choroidal folds (77%), short axial lengths (39% less than 23 mm), and hyperopic refractive error (86%), older age, and a small cup-to-disc ratio[1]. This entity is seen more commonly in males and is usually bilateral. Govetto et al described a sporadic association of PPS with pulmonary arterial hypertension published a case study, in which choroidal ischemia is thought to have been caused by hemodynamic disturbances due to increased central venous pressure[3]
Etiology
The etiology is unknown. Some theorize arteriosclerosis and increased persistent sympathetic to dilation of choroidal vessels and hyperpermeability. Some authors believe it to be a variant of central serous chorioretinopathy rather than in a pachychoroid disease spectrum.
Pathophysiology
The pachychoroid disease spectrum (PDS) refers to a group of retinochoroidal disorders, which share distinctive choroidal findings identified with multimodal retinal imaging, which include focal or diffuse choroidal thickening associated with reduced fundus tessellation, dilated Haller layer vessels (termed “pachyvessels”) with thinning of the overlying inner choroid, and choroidal hyperpermeability demonstrated with indocyanine green angiography (ICGA)[1]. The PDS includes pachychoroid pigment epitheliopathy, focal choroidal excavation, central serous chorioretinopathy (CSC) , pachychoroid neovasculopathy, polypoidal choroidal vasculopathy, and recently described peripapillary pachychoroid syndrome[1].
Many authors believe that the etiology of PPS is similar to that of CSR, where congestion in choroidal vasculature leads to RPE dysfunction and accumulation of subretinal fluid. Peripapillary anastomoses between retinal and choroidal circulation can lead to transmission of choroidal hydrostatic pressure to the retinal layers in this region.[4]
Diagnosis
PPS was described initially by Phasukkijwatana et al in 2018 as presence of thick and hyperpermeable choroid in the peripapillary area and nasal macula. [5] The peripapillary choroidal congestion leads to intra-retinal and subretinal fluid in the peripapillary area leading to compression of the optic nerve causing crowded disc appearance with choroidal folds and in some cases optic disc edema. [6] Slowly overlying RPE atrophy ensues. It is often associated with hyperopia with short axial length, and can be sometimes confused with uveal effusion syndrome. Choroidal detachment is absent in PDS.
Clinical diagnosis
PPS shares many common imaging features with chronic central serous chorioretinopathy , such as RPE alterations, as well as similar ICGA findings, and, in some cases, the presence of serous pigment epithelial detachment, gravitational tracks, evidence of serous retinal detachment outside the peripapillary region with fundus autofluorescence, and outer retinal atrophy. However, the increased choroidal thickness in PPS is significantly different from typical CSC in that the nasal macular choroid can be particularly thick, with thickness sharply decreasing towards the temporal side[7][8].
Diagnostic procedures
Fluorescein Angiography (FA): Late-phase FA illustrates speckled hyperfluorescent window defects and staining surrounding the optic disk and intense staining of PPA in both eyes. There is no distinct leakage. Early-phase ICGA illustrates peripapillary dilated large choroidal vessels (pachyvessels)
Indocyanine green angiography (ICG): Early-phase ICGA shows dilated large choroidal vessels or pachyvessels predominantly in the nasal macula and peripapillary region in both eyes. Mid- to late-phase ICGA usually shows multifocal peripapillary choroidal hyperpermeability in areas corresponding to the pachyvessels.
OCT through the optic disks can show intraretinal fluid in both the nasal and temporal regions adjacent to the optic disks with associated choroidal hypertransmission and atrophy of the RPE, ellipsoid zone, and ELM. Peripapillary pachyvessels are more prominently seen in the nasal versus the temporal areas.
Enhanced depth imaging OCT will show intraretinal fluid with cysts in the nasal macula extending to the temporal optic disk margin with associated focal RPE, ellipsoid zone, and ELM atrophy in both eyes. Presence of RPE atrophy with corresponding choroidal signal hypertransmission in the peripapillary area is usually obvious.
Fundus autofluorescence illustrates hypoautofluorescent peripapillary atrophy (PPA) and large areas of peripapillary mottled autofluorescence of the RPE in the peripapillary region, as well as gravitational tracks in the peripapillary area.
Differential diagnosis
- Chronic central serous chorioretinopathy (CSC)
- Posterior uveitis
- Neuro-ophthalmological conditions with similar presentation
Management
General treatment
Spontaneous resolution of the disease is seen. [9]
Anti-VEGF injections have shown mixed results. Improved BCVA after low-fluence PDT has been seen with significant improvement in both SRF and CST, although the efficacy is less than what is seen CSR.[10] Verteporfin photodynamic therapy (PDT) is the preferred treatment for chronic cases. PDT targets the choroidal hyperpermeability, reduces the dilated choroidal vasculature, reduces the choroidal thickness, and leads to resolution of subretinal fluid. PDT significantly decreases the thickness of Haller’s layer without alteration of the choriocapillaris and Sattler’s layer, thereby restoring normal choroidal morphology. To improve the safety, half dose and/ or half fluence PDT have been advocated, but the efficacy remains questionable. However, half dose PDT has shown promise in attaining better final visual acuity, and lower rate of recurrence than conventional PDT in some studies.
References
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 Phasukkijwatana, N., Freund, K. B., Dolz-Marco, R., Al-Sheikh, M., Keane, P. A., Egan, C. A., … Sarraf, D. (2018). PERIPAPILLARY PACHYCHOROID SYNDROME. Retina, 38(9), 1652–1667. doi:10.1097/iae.0000000000001907
- ↑ Moraru, A.D., Costin, D., Moraru, R.L., Costuleanu, M., & Brănișteanu, D.C. (2020). Current diagnosis and management strategies in pachychoroid spectrum of diseases (Review). Experimental and Therapeutic Medicine, 20, 3528-3535. https://doi.org/10.3892/etm.2020.9094
- ↑ Govetto A, Sarraf D, Scialdone A. "HIDE AND SEEK" NEUROSENSORY RETINAL DETACHMENTS IN PERIPAPILLARY PACHYCHOROID SYNDROME ASSOCIATED WITH PULMONARY ARTERIAL HYPERTENSION. Retin Cases Brief Rep. 2019 Nov 21. doi: 10.1097/ICB.0000000000000942. Epub ahead of print. PMID: 31764883.
- ↑ B Brown R, Mohan S, Chhablani J. Pachychoroid Spectrum Disorders: An Updated Review. J Ophthalmic Vis Res. 2023 Apr 19;18(2):212-229.
- ↑ Phasukkijwatana N, Freund KB, Dolz-Marco R, Al-Sheikh M, Keane PA, Egan CA, et al. Peripapillary Pachychoroid Syndrome. Retina (Philadelphia, Pa), 2018; 38(9):1652-67.
- ↑ Mazzeo, T.J.M.M., Leber, H.M., da Silva, A.G. et al. Pachychoroid disease spectrum: review article. Graefes Arch Clin Exp Ophthalmol 260, 723–735 (2022).
- ↑ Castro-Navarro, V., Behar-Cohen, F., Chang, W. et al. Pachychoroid: current concepts on clinical features and pathogenesis. Graefes Arch Clin Exp Ophthalmol 259, 1385–1400 (2021). https://doi.org/10.1007/s00417-020-04940-0
- ↑ Alonso-Martín, B., de-Lucas-Viejo, B., Gimeno-Carrero, M., Ferro-Osuna, M., & Sambricio, J. (2020). Diagnosis by multimodal imaging in peripapillary pachychoroid syndrome: A case report. Archivos de La Sociedad Española de Oftalmología (English Edition), 95(5), 248–253. doi:10.1016/j.oftale.2020.01.014
- ↑ Kumawat D, Bhayana A, Kumar V. PachychoroidPachychoroid Spectrum Disorders: A Review of Clinical Features and Management.DJO 2019;30:7-15
- ↑ B Brown R, Mohan S, Chhablani J. Pachychoroid Spectrum Disorders: An Updated Review. J Ophthalmic Vis Res. 2023 Apr 19;18(2):212-229.
