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Article

Clinical Characterization of Korean Patients with Pseudoxanthoma Elasticum and Angioid Streaks

by , and *
Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam 13620, Korea
*
Author to whom correspondence should be addressed.
Ki Won Jin and Kwangsic Joo contributed equally as co-first authors.
Academic Editor: Dror Sharon
Genes 2021, 12(8), 1207; https://doi.org/10.3390/genes12081207
Received: 9 July 2021 / Revised: 31 July 2021 / Accepted: 1 August 2021 / Published: 4 August 2021
(This article belongs to the Special Issue Study of Inherited Retinal Diseases)
This study aimed to characterize Korean patients with pseudoxanthoma elasticum (PXE) presenting with angioid streaks. Retinal phenotypes were longitudinally evaluated by multimodal ophthalmic imaging, and targeted gene panel sequencing for inherited retinal diseases was conducted. Seven subjects from unrelated families (median age, 51.2 years) were enrolled and followed for a median of 3.2 years. Four asymptomatic patients were significantly younger than three symptomatic patients with decreased visual acuity at presentation (mean age; 38.1 vs. 61.5 years, p = 0.020). The asymptomatic patients maintained good vision (20/32 or better) and had no choroidal neovascularization (CNV) over the observation period. The symptomatic patients showed additional reduction in visual acuity and bilateral CNV occurrence during the longitudinal follow-up. Pathogenic ABCC6 variants were identified in all patients, leading to a diagnosis of PXE. Heterozygous monoallelic variants were identified in four patients and compound heterozygous variants were detected in three patients. Nine ABCC6 variants were identified, including one novel variant, c.2035G>T [p.Glu679Ter]. This is the first genetic study of Korean patients with PXE. View Full-Text
Keywords: ABCC6; angioid streaks; pseudoxanthoma elasticum; Korean population ABCC6; angioid streaks; pseudoxanthoma elasticum; Korean population
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MDPI and ACS Style

Jin, K.W.; Joo, K.; Woo, S.J. Clinical Characterization of Korean Patients with Pseudoxanthoma Elasticum and Angioid Streaks. Genes 2021, 12, 1207. https://doi.org/10.3390/genes12081207

AMA Style

Jin KW, Joo K, Woo SJ. Clinical Characterization of Korean Patients with Pseudoxanthoma Elasticum and Angioid Streaks. Genes. 2021; 12(8):1207. https://doi.org/10.3390/genes12081207

Chicago/Turabian Style

Jin, Ki Won, Kwangsic Joo, and Se Joon Woo. 2021. "Clinical Characterization of Korean Patients with Pseudoxanthoma Elasticum and Angioid Streaks" Genes 12, no. 8: 1207. https://doi.org/10.3390/genes12081207

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