期刊
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
卷 35, 期 1, 页码 10-16出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/IAE.0000000000000287
关键词
choroid; pachychoroid; central serous chorioretinopathy; genetic; inheritance; chroidal thickness
Purpose: Thick choroid (pachychoroid) is associated with central serous chorioretinopathy (CSC), but whether pachychoroid is inherited is unknown. Methods: In a prospective observational study, first-or second-degree relatives (16 individuals) of 5 patients with CSC had refraction and visual acuity measurement, fundus examination, nonmydriatic photography, and autofluorescence photography. Eyes were graded using the following criteria: 0: normal fundus and autofluorescence photography, 1: focal retinal pigment epithelium hyperfluorescence and/or hypofluorescence and/or retinal pigment epithelial detachment, 2: CSC or diffuse retinal epitheliopathy. Choroid thickness was measured by enhanced depth imaging mode on optical coherence tomography. Results: Considering 395 mu m as the threshold limit for normal subfoveal choroidal thickness, 50% of the eyes from relatives had a thick choroid. Nine eyes of Grade 0 (28%) with an isolated pachychoroid would thus have been considered normal, if choroidal thickness was not included as a screening sign predisposing for CSC. Conclusion: Our observation suggests that pachychoroid could be an inherited condition with potentially a dominant transmission mode. Its inclusion in the phenotype of CSC for genetic studies should be considered.
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