Pachychoroid Disease Research Articles

Hypothetical pathogenesis of age-related macular degeneration and pachychoroid diseases derived from their genetic characteristics.

Genetic studies have investigated the pathogenesis of age-related macular degeneration (AMD). The pachychoroid concept has recently garnered attention as a possible explanation for AMD pathogenesis; the genetic characteristics of pachychoroid diseases have also been elucidated. In this review, we summarize previously reported genetic characteristics of AMD and pachychoroid diseases, and analyze these data to understand the pathogenesis of AMD and pachychoroid diseases. Previous studies show that VIPR2 and the CFH I62V A allele promote development of pachychoroid and central serous chorioretinopathy (CSC), while the CFH I62V G allele promotes development of drusen, pachychoroid neovasculopathy (PCN/PNV), and AMD. ARMS2/HTRA1 also promotes development of drusen, PCN/PNV, and AMD. TNFRSF10A and GATA5 are associated with CSC but not with pachychoroid, and TNFRSF10A is associated with AMD that includes PCN/PNV. These genetic characteristics suggest the following mechanisms of developing AMD and pachychoroid diseases. VIPR2 and the CFH I62V A allele promote pachychoroid development, which can result in CSC development. The CFH I62V G allele promotes a common step during PCN/PNV and AMD development induced by pachychoroid or drusen, such as damage of Bruch's membrane or retinal pigment epithelium (RPE). ARMS2/HTRA1 also promotes damage of Bruch's membrane or RPE, while the association with drusen formation is stronger in ARMS2/HTRA1 than in CFH. TNFRSF10A and GATA5 promote blood-retinal-barrier breakdown to induce CSC, which could lead to PCN/PNV development. Furthermore, recently reported genetic associations with the natural course of CSC suggest the importance of reconsidering the subtype classification of CSC. These associations would enable the development of personalized/precision medicine for CSC and.

Current diagnosis and management strategies in pachychoroid spectrum of diseases (Review).

This review presents a systematic analysis of the literature regarding the pachychoroid disease spectrum nomenclature, diagnosis criteria and therapeutic options. Pachychoroid related diseases are a new concept, introduced into the ophthalmological nomenclature in 2013 and evolving both as concept and as classification since then. The six disorders included in this phenotype have some common characteristics (thick choroid, pachyvessels, attenuation of the choriocapillaris), but also show individual features. The classification of the pachychoroid spectrum was revised many times, with the recent addition of the focal choroidal excavation (FCE) and peripapillary pachychoroid syndrome (PPS). As the terminology is developing, so is the number of case reports and case series from the initial report in 2013 to 57 reports in 2019. This review takes into account both the current literature and the clinical experience of the authors, emphasizing the understanding of the pathogenesis and aiming to update the therapeutic options available.

Classification of pachychoroid disease on ultrawide-field indocyanine green angiography using auto-machine learning platform

AimsAutomatic identification of pachychoroid maybe used as an adjunctive method to confirm the condition and be of help in treatment for macular diseases. This study investigated the feasibility of classifying...

Characteristics of Pachychoroid Diseases and Age-Related Macular Degeneration: Multimodal Imaging and Genetic Backgrounds.

The emergence of pachychoroid disease is changing the concept of age-related macular degeneration (AMD). The concept of pachychoroid diseases was developed through clinical observation of multimodal images of eyes with AMD and central serous chorioretinopathy; however, recent genetic studies have provided a proof of concept for pachychoroid spectrum disease, which should be differentiated from drusen-driven AMD. The genetic confirmation of pachychoroid concept further provides novel viewpoints to decode previously reported findings, which facilitates an understanding of the true nature of pachychoroid diseases and AMD. The purpose of this review was to elucidate the relationship between pachychoroid diseases and AMD by interpreting previous findings on pachychoroid diseases and AMD from the novel viewpoints of genetic associations. We confirmed that previous genetic studies supported the concept of pachychoroid diseases. From a genetic viewpoint, the presence of thick choroid and the presence of choroidal vascular hyperpermeability were important characteristics of pachychoroid spectrum diseases. Previous studies have also suggested the classification of polypoidal choroidal vasculopathy (PCV) into two subtypes, pachychoroid neovasculopathy and drusen-driven PCV. Genetic viewpoints will be beneficial to rearrange subtypes of drusen-driven AMD and pachychoroid spectrum diseases. Further genetic studies are needed to investigate pachyvessels, pachydrusen and the significance of polypoidal lesions in pachychoroid neovasculopathy and drusen-driven AMD/PCV.

A comparative study of the choroidal vascularity indexes in the fellow eyes of patients with pachychoroid neovasculopathy and central serous chorioretinopathy by binarization method

To evaluate the choroidal vascularity index (CVI) in the fellow eyes of patients with pachychoroid neovasculopathy (PCN) and central serous chorioretinopathy (CSC). Fifty-eight asymptomatic fellow eyes from 58 patients diagnosed with PCN or CSC and 26 eyes from 26 healthy participants were included. The total choroidal area (CA), luminal area (LA), and stromal area (SA) were measured with ImageJ software and Niblack threshold method. The CVI, which was the proportion of the LA to the CA, was assessed. The CA, LA, and SA were widest in the fellow eyes of the CSC group. The differences between the fellow eyes of the CSC group and the control group and the differences between the fellow eyes of the PCN group and the CSC group were significant (p < 0.001). The CVI of the fellow eyes of the CSC group was significantly higher than the control group (74.93 ± 3.58 vs. 73.38 ± 3.09, p = 0.023). The differences in the CA, LA, and SA in particular pachychoroid diseases were evident in the asymptomatic fellow eyes. Pachychoroid diseases are characterized by thick choroid or vessels as a common feature, but they may have different structural choroidal features, which might result in different consequences.

Diagnosis by multimodal imaging in peripapillary pachychoroid syndrome: A case report

The case is reported of a 73-year-old male presenting with the recently described peripapillary pachychoroid syndrome. This syndrome is included in the pachychoroid diseases, which is a relatively new condition characterised by increased choroidal thickness with attenuation of the choriocapillary layer located above dilated choroidal vessels. It is associated with progressive malfunction of the retinal pigment epithelium and neovascularisation. The case is presented with a multimodal image, in which some tests show signs not previously described. In addition, a description is presented of the asymmetric outcome of both eyes after multiple treatments, since the left eye has a very severe affectation, and is refractory to the treatment.

Clinical implications of pachyvessels in polypoidal choroidal vasculopathy

BackgroundPolypoidal choroidal vasculopathy (PCV) is one of the disorders within the pachychoroid spectrum diseases. The presence of pachyvessels is one of the characteristics of pachychoroid disorders. However, the relationship between the presence of pachyvessels and the clinical characteristics of PCV eyes has not been determined. The purpose of this study was to determine the relationship between the presence of choroidal pachyvessels and the clinical characteristics of eyes with PCV.MethodsThe medical records of patients who were diagnosed with PCV and were treatment-naïve were reviewed. Fluorescein and indocyanine green angiography, fundus photography, spectral domain optical coherence tomography (SD-OCT), and enhanced depth imaging OCT (EDI-OCT) were used to obtain images of the choroid. The presence of pathologically dilated outer choroidal vessels, pachyvessels, was determined by ICGA images. These pachyvessels were confirmed to correspond with the large choroidal vessels in the EDI OCT images. The PCV eyes were divided into two groups based on the presence or absence of pachyvessels and clinical features and subfoveal choroidal thickness (SFCT) were evaluated between the two groups.ResultsEighty-six eyes of 84 patients with PCV were evaluated. Pachyvessels were detected in 48 eyes (55.8%). The mean SFCT was 203.9 ± 83.9 μm in all 86 eyes, and it was significantly thinner in eyes with pachyvessels (+) than without pachyvessels (−) (183.2 ± 58.4 μm vs 230.2 ± 103.1 μm; P = 0.01). The differences in the incidence of subretinal fluid, pigment epithelial detachments, and hemorrhages between the two groups were not significant. However, the PCV eyes in pachyvessels (+) group with hemorrhage had the thinnest choroid (P = 0.047). The choroidal features of the fellow eyes were similar to those of the PCV affected eyes, that is, the fellow eyes in pachyvessels (+) group had pachyvessels and the fellow eyes in pachyvessels (−) group did not have pachyvessels.ConclusionsPachyvessels were presented 55.8% in eyes with PCV, and these eyes had the thin SFCT. The presence of pachyvessels and attenuation of the inner choroid were probably due to the pathological changes in the eyes with PCV.

Pachydrusen: the epidemiology of pachydrusen and its relevance to progression of pachychoroid disease spectrum.

Pachydrusen: the epidemiology of pachydrusen and its relevance to progression of pachychoroid disease spectrum.

Pachychoroid disease: a new perspective on exudative maculopathy.

Pachychoroid, or the structural and functional abnormalities of the choroid, is one of the most important causes of exudative maculopathies. The purpose of this article is to review the current definitions of pachychoroid and their potential consequences. Most publications are from Asian countries. Although no consensus diagnosis has been reached, pachychoroid is defined by thickened choroid and choroidal vascular hyperpermeability, pachyvessels with inner choroidal attenuation; it is closely linked to pachydrusen. Although some studies suggest choroidal congestion may play a role in its pathogenesis, the exact causes of this condition are still unknown. Pachychoroid is associated with exudative maculopathies including central serous chorioretinopathy, pachychoroid neovasculopathy and polypoidal choroidal vasculopathy (PCV). It is widely accepted that macular neovascular membranes may develop secondary to pachychoroid. Recent clinical observations illustrate the importance of pachychoroid in the etiology of macular neovascularization including neovascular age-related macular degeneration (nAMD). Pachychoroid is an important cause of exudative maculopathies. Both drusen and pachychoroid are increasingly recognized as important causes of macular neovascularization, and eyes formally categorized as typical nAMD or PCV can be further sub-categorized based on the presence or absence of pachychoroid and drusen. There is a need to develop a consensus definition, which will greatly enhance our understanding of pachychoroid and facilitate the development of individual interventions in pachychoroid diseases.

Vortex Vein Anastomosis at the Watershed in Pachychoroid Spectrum Diseases

To evaluate the vascular changes in vortex veins at the posterior pole in pachychoroid spectrum diseases, including central serous chorioretinopathy (CSC), pachychoroid neovasculopathy without polypoidal lesions (PNV), and pachychoroid neovasculopathy with polypoidal lesions (polypoidal choroidal vasculopathy [PCV]). Retrospective case-control study. Ninety-two eyes of 89 patients with CSC, 61 eyes of 59 patients with PNV, 63 eyes of 61 patients with PCV, and 25 healthy control eyes of 25 age- and gender-matched participants for each pachychoroid spectrum disease. Clinical records of patients with pachychoroid spectrum diseases and healthy controls were reviewed. Multimodal images of each group were analyzed. Swept-source OCT was performed to obtain B-mode and en face images in patients with pachychoroid spectrum diseases and healthy controls. All patients underwent fluorescein angiography, indocyanine green angiography, and OCT. Vortex vein anastomosis at the watershed, determined using en face OCT, and central choroidal thickness (CCT), measured using B-mode OCT, were examined in patients and healthy controls. Patient ages also were taken into consideration. Patients with CSC were the youngest, followed by patients with PNV, and then those with PCV (P < 0.01, CSC vs. PNV and PNV vs. PCV), whereas CSC eyes showed the highest CCT values, followed by the PNV and then the PCV eyes (P < 0.01, CSC vs. PNV; P < 0.05, PNV vs. PCV). Central choroidal thickness was significantly greater in pachychoroid spectrum diseases than in healthy controls. No significant CCT differences were found among healthy controls. Anastomosis between superior and inferior vortex veins was observed in more than 90% of eyes with pachychoroid spectrum diseases, making this finding significantly more frequent than in healthy controls (P < 0.01, each pachychoroid spectrum disease vs. control). Polypoidal choroidal vasculopathy showed a significantly higher rate of anastomosis than CSC (P < 0.05). Anastomosis between superior and inferior vortex veins was found to be a common feature in pachychoroid spectrum diseases. Longstanding vortex vein congestion may lead to the development of pachychoroid spectrum diseases. Choroidal congestion may be compensated for by new drainage routes formed via vortex vein anastomosis.

Pachychoroid Spectrum Diseases; Color Fundus Photograph, Fundus Fluorescein Angiography And Indocyanine Green Angiography.

The term of pachychoroid spectrum diseases is used to identify a group of diseases that are characterized by increase of choroidal thickness. The increase of choroidal thickness is caused by dilated vascular vessels in Haller’s layer and accompanied by thinning in the choriocapillaris and Sattler’s layer. The presence of characteristic morphological changes including structural and functional choroidal changes is the key pathophysiological basis for the identification of pachychoroid diseases. The spectrum of pachychoroid disease consists of different clinical manifestations that can progress from one to another. Multimodal imaging methods are used in the diagnosis, treatment, and follow-up of these diseases. In this review, color fundus photographs, fundus fluorescein angiography, and indocyanine green angiography characteristics of pachychoroid diseases are discussed.

Pachychoroid Spectrum Disease and Central Serous Chorioretinopathy Treatment with Subthreshold Micropulse Laser and Verteporfin Photodynamic Therapy

The common morphological features of pachychoroid spectrum disease are defined by an increase in choroidal thickness due to dilated choroidal vessels in Haller’s layer. A wide range of clinical alterations has been defined within the pachychoroid disease spectrum including, pachychoroid pigment epitheliopathy, central serous chorioretinopathy, pachychoroid neovasculopathy, polypoidal choroidal vasculopathy, focal choroidal excavation, peripapillary pachychoroid syndrome. In patients experiencing vision loss due to central subretinal fluid, pigment epithelial detachment, and choroidal neovascularization, treatment should be considered to improve or stabilize visual function. Nowadays, Anti-Vascular endothelial growth factor (VEGF) therapy, subthreshold micropulse laser, and verteporfin photodynamic therapy are commonly used treatment modalities.

Genetics, Risk Factors and Pathogenesis in the Spectrum of Pachychoroid Diseases

The spectrum of pachychoroid disease was first described by Warrow et al. in 2013. The characteristics of pachyoroid phenotype are dilatation of the vessels in the Haller layer (pachyvessels), thinning of the layers of Sattler, and choriocapillaris. Dilated choroidal vessels, choroidal hyperpermeability, diffuse or focal choroidal thickness and associated with progressive retinal pigment epithelium (RPE) dysfunction are thought to be in the pathogenesis. Angiographic findings such as choroidal vascular hyperpermeability, especially in the region of RPE changes, and delay in choroidal filling suggest that the primary pathology is associated with choroidal vascular disturbance. However, the exact pathophysiological mechanisms of the disease are not fully known. Pakikoroid-related diseases include pachychoroid pigment epitheliopathy, central serous chorioretinopathy, pachychoroid neovasculopathy, polypoidal choroidal vasculopathy, focal choroidal excavation, and peripapillary pachychoroid syndrome. These diseases are thought to be reveal different manifestations of common pathological mechanisms. This review highlights the current understanding of genetics, risk factors, and pathogenesis in the spectrum of pachychoroid disease based on the current literature.

Epidemiology, Prevalence And Incidence in Pachychoroid Disease Spectrum

Pachychoroid is a relatively novel concept describing a phenotype characterized by increased choroidal thickening, pathologically dilated veins in the Haller’s layer (pachy-veins), thinning in Sattler’s and choriocapillaris layers. The spectrum comprises the following disease groups: Pachychoroid Pigment Epitheliopathy, Central Serous Chorioretinopathy, Pachychoroid Neovasculopathy, Polypoidal Choroidal Vasculopathy, Focal choroidal excavation, Peripapillary pachychoroid syndrome. These conditions all exhibit the characteristic choroidal alterations and are believed to represent different manifestations of a common pathogenic process. The aim of this review is to exhibit the epidemiology, risk factors, incidence and prevalence of the pachychoroid diseases respectively.

Diagnóstico mediante imagen multimodal en síndrome paquicoroideo peripapilar: a propósito de un caso

The case is reported of a 73-year-old male presenting with the recently described peripapillary pachychoroid syndrome. This syndrome is included in the pachychoroid diseases, which is a relatively new condition characterised by increased choroidal thickness with attenuation of the choriocapillary layer located above dilated choroidal vessels. It is associated with progressive malfunction of the retinal pigment epithelium and neovascularisation. The case is presented with a multimodal image, in which some tests show signs not previously described. In addition, a description is presented of the asymmetric outcome of both eyes after multiple treatments, since the left eye has a very severe affectation, and is refractory to the treatment.

The spectrum of disorders related to pachychoroid: an EDI‐OCT evaluation

AbstractPachychoroid disease is defined as: hyperpermeability on ICG angiography, loss if the inner choroid and dilated outer choroidal vessels (pachyvessels), presence of pachydrusen (drusenoid deposits) and diffuse or focal increased choroidal thickness visualized on OCT. The pachychoroid disease spectrum is divided in non‐neovascular pachychoroid disease and pachychoroid neovasculopathy (type 1 aneuvrysmal CNV, PCV). The non‐neovascular pachychoroid disease is divided in pachychoroid pigment epitheliopathy, central serous chorioretinopathy, peripapillary pachychoroid syndrome and focal choroidal excavation. The enhanced depth imaging module of the Spectral domain OCT (Heidelberg Inc®) allows measurement of the choroidal thickness and precise visualization of the different layers of the choroid thus guiding clinicians through differential diagnosis of pachychoroid disease and its related therapeutic management. At the end of the talk, participants should be able to recognizes key signs on EDI OCT of each subgroup of pachychoroid disease.

Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy

The recently emerged pachychoroid concept has changed the understanding of age-related macular degeneration (AMD), which is a major cause of blindness; recent studies attributed AMD in part to pachychoroid disease central serous chorioretinopathy (CSC), suggesting the importance of elucidating the CSC pathogenesis. Our large genome-wide association study followed by validation studies in three independent Japanese and European cohorts, consisting of 1546 CSC samples and 13,029 controls, identified two novel CSC susceptibility loci: TNFRSF10A-LOC389641 and near GATA5 (rs13278062, odds ratio = 1.35, P = 1.26 × 10−13; rs6061548, odds ratio = 1.63, P = 5.36 × 10−15). A T allele at TNFRSF10A-LOC389641 rs13278062, a risk allele for CSC, is known to be a risk allele for AMD. This study not only identified new susceptibility genes for CSC, but also improves the understanding of the pathogenesis of AMD.

Evaluation of the choroidal features in pachychoroid spectrum diseases by optical coherence tomography and optical coherence tomography angiography.

To evaluate choroidal area, stroma/lumen ratio, choriocapillaris vessel density, and choriocapillaris flow area in eyes with central serous chorioretinopathy, uncomplicated pachychoroid, and pachychoroid pigment epitheliopathy using enhanced depth imaging-optical coherence tomography and optical coherence tomography angiography. This retrospective study analyzed enhanced depth imaging-optical coherence tomography and optical coherence tomography angiography scans of 142 eyes of 92 patients with central serous chorioretinopathy, uncomplicated pachychoroid, and pachychoroid pigment epitheliopathy. The choroidal area and stroma/lumen ratio were measured by binarization of enhanced depth imaging-optical coherence tomography images. Choriocapillaris vessel density and choriocapillaris flow area were measured at the choriocapillaris level by manual segmentation of optical coherence tomography angiography scans. The mean stroma/lumen ratio results were 0.361, 0.345, and 0.354 in central serous chorioretinopathy, uncomplicated pachychoroid, and pachychoroid pigment epitheliopathy groups, respectively (p > 0.05). The mean whole image choriocapillaris vessel density in uncomplicated pachychoroid group was higher compared with central serous chorioretinopathy and pachychoroid pigment epitheliopathy groups (p < 0.0001). The mean foveal, parafoveal, and perifoveal choriocapillaris vessel densities were lower in central serous chorioretinopathy group than in uncomplicated pachychoroid group (p < 0.0001). The mean choriocapillaris flow area was lower in central serous chorioretinopathy group than in uncomplicated pachychoroid and pachychoroid pigment epitheliopathy groups (p < 0.0001 and p = 0.01, respectively). Our findings suggest that both choroidal vessels and stroma are equally involved in central serous chorioretinopathy, uncomplicated pachychoroid, and pachychoroid pigment epitheliopathy. The choriocapillaris segment seems to be more affected in central serous chorioretinopathy compared to uncomplicated pachychoroid and pachychoroid pigment epitheliopathy. However, the reduced optical coherence tomography angiography signal in central serous chorioretinopathy group could be due to shadowing artifact or choriocapillaris hypoperfusion and further studies with higher quality imaging tools are needed.

Long-term follow-up of quiescent choroidal neovascularisation associated with age-related macular degeneration or pachychoroid disease

AimsTo evaluate the long-term progression of quiescent type 1 choroidal neovascularisation (CNV) associated with age-related macular degeneration (AMD) or with pachychoroid disease.MethodsAll cases of quiescent type 1 CNV with a...

Bilateral edema in the papillomacular bundle

Peripapillary pachychoroid syndrome (PPS) is anewly described disease entity belonging to the spectrum of pachychoroid diseases. We report on apatient with PPS.