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Ayako Takahashi, Yoshikatsu Hosoda, Masahiro Miyake, Akio Oishi, Sotaro Ooto, Akitaka Tsujikawa; Clinical and Genetic Characteristic of Pachydrusen in Eyes with Central Serous Chorioretinopathy and Normal Subjects. Invest. Ophthalmol. Vis. Sci. 2019;60(9):5005.
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© ARVO (1962-2015); The Authors (2016-present)
To survey the prevalence and, clinical and genetic characteristic of pachydrusen in eyes with central serous chorioretinopathy (CSC) and normal subjects
Six hundred fourteen eyes of 307 patients with CSC without any history of treatment in either eye, and 1472 eyes of 736 normal Japanese cohort were recruited. Pachydrusen were detected using color fundus photography and subfoveal choroidal thickness was measured using optical coherence tomography images. The genotype distributions with respect to 3 single nucleotide polymorphisms (SNPs) associated with age-related macular degeneration or CSC were evaluated: ARMS2 A69S, CFH I62V and CFH Y402H.
The prevalence of pachydrusen was significantly higher among CSC patients than that among normal controls (39.7% vs 15.8%, P<0.001). CSC patients with pachydrusen were older than those without pachydrusen (62.2 vs 48.7 years, P<0.001). In the control group, also individuals with pachydrusen were older than those without pachydrusen (70.3 vs 51.8 years, P<0.001). Among both participants with CSC and normal volunteers, the choroidal thickness was greater in those with pachydrusen than in those without pachydrusen (364μm vs 376μm P=0.013, 293μm vs 305μm, P=0.019, respectively; P value was adjusted for age, sex and refractive error). Among CSC patients there was no significant difference in genotype distributions between those with and without pachydrusen. In the normal Japanese cohort, the frequency of the T allele of ARMS2 A69S were higher among individuals with pachydrusen than among those without pachydrusen (42.9% vs 33.9%; P=0.008, OR:1.68, adjusted for age, sex and choroidal thickness), but the A allele frequency in CFH I62V was not significantly different between in those with pachydrusen and without pachydrusen (46.6% vs 39.9%, OR: 1.27, P=0.216, adjusted with age, sex and choroidal thickness).
Pachydrusen was observed more frequently in CSC patients compared with normal subjects. In normal subjects, pachydrusen was associated with a thicker choroid, and we suggest that pachydrusen should be considered as a significant sign of pachychoroid spectrum. As CFH I62V was not found to be associated with pachydrusen, it may be associated with choroidal thickness rather than with pachydrusen occurrence. We speculate that ARMS2 A69S may be associated with the occurrence of pachydrusen in normal subjects.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.
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