ReviewJapanese journal of ophthalmology2020
Hypothetical pathogenesis of age-related macular degeneration and pachychoroid diseases derived from their genetic characteristics.
Review in Japanese journal of ophthalmology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 16 citations in OpenAlex.
- Associations between Progression of Retinal Pigment Epithelial and Outer Retinal Atrophy and Choroidal Thickness: A 2-Year observation.Ophthalmology science · 2026Article
- TMEM132D and VIPR2 Polymorphisms as Genetic Risk Loci for Retinal Detachment: A Genome-Wide Association Study and Polygenic Risk Score Analysis.Investigative ophthalmology & visual science · 2023Article
- Dysregulation of a lncRNA within the TNFRSF10A locus activates cell death pathways.Cell death discovery · 2023Article
- A Comparative Study of Short-Term Vascular and Stromal Alterations of the Choroid Following Half-Fluence Photodynamic Therapy in Pachychoroid Neovasculopathy and Chronic Central Serous Chorioretinopathy.Life (Basel, Switzerland) · 2022Article
- Choriocapillaris Flow Imbalance in Fellow Eyes in Age-Related Macular Degeneration.Investigative ophthalmology & visual science · 2022Article
- HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF-β/Smad signaling pathway in CARASIL model mice.Brain and behavior · 2022Article
- Dry age-related macular degeneration in the Japanese population.Japanese journal of ophthalmology · 2022Article
- Clinical characteristics of central serous chorioretinopathy in patients by age.Japanese journal of ophthalmology · 2021Article
- Photodynamic therapy combined with anti-vascular endothelial growth factor therapy for pachychoroid neovasculopathy.PloS one · 2021Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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