Clinical Characterization of Korean Patients with Pseudoxanthoma Elasticum and Angioid Streaks
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 fro...
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-08-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/12/8/1207 |
| _version_ | 1797523807151325184 |
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| author | Ki Won Jin Kwangsic Joo Se Joon Woo |
| author_facet | Ki Won Jin Kwangsic Joo Se Joon Woo |
| author_sort | Ki Won Jin |
| collection | DOAJ |
| description | 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, <i>p</i> = 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 <i>ABCC6</i> 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 <i>ABCC6</i> variants were identified, including one novel variant, c.2035G>T [p.Glu679Ter]. This is the first genetic study of Korean patients with PXE. |
| first_indexed | 2024-03-10T08:48:19Z |
| format | Article |
| id | doaj.art-f774a688eb714c2ab61f1261f9969631 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T08:48:19Z |
| publishDate | 2021-08-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-f774a688eb714c2ab61f1261f99696312023-11-22T07:46:04ZengMDPI AGGenes2073-44252021-08-01128120710.3390/genes12081207Clinical Characterization of Korean Patients with Pseudoxanthoma Elasticum and Angioid StreaksKi Won Jin0Kwangsic Joo1Se Joon Woo2Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam 13620, KoreaDepartment of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam 13620, KoreaDepartment of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam 13620, KoreaThis 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, <i>p</i> = 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 <i>ABCC6</i> 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 <i>ABCC6</i> variants were identified, including one novel variant, c.2035G>T [p.Glu679Ter]. This is the first genetic study of Korean patients with PXE.https://www.mdpi.com/2073-4425/12/8/1207<i>ABCC6</i>angioid streakspseudoxanthoma elasticumKorean population |
| spellingShingle | Ki Won Jin Kwangsic Joo Se Joon Woo Clinical Characterization of Korean Patients with Pseudoxanthoma Elasticum and Angioid Streaks Genes <i>ABCC6</i> angioid streaks pseudoxanthoma elasticum Korean population |
| title | Clinical Characterization of Korean Patients with Pseudoxanthoma Elasticum and Angioid Streaks |
| title_full | Clinical Characterization of Korean Patients with Pseudoxanthoma Elasticum and Angioid Streaks |
| title_fullStr | Clinical Characterization of Korean Patients with Pseudoxanthoma Elasticum and Angioid Streaks |
| title_full_unstemmed | Clinical Characterization of Korean Patients with Pseudoxanthoma Elasticum and Angioid Streaks |
| title_short | Clinical Characterization of Korean Patients with Pseudoxanthoma Elasticum and Angioid Streaks |
| title_sort | clinical characterization of korean patients with pseudoxanthoma elasticum and angioid streaks |
| topic | <i>ABCC6</i> angioid streaks pseudoxanthoma elasticum Korean population |
| url | https://www.mdpi.com/2073-4425/12/8/1207 |
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