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Corneal recurrent erosions dystrophies in Sweden
Umeå University, Faculty of Medicine, Department of Clinical Sciences, Ophthalmology.
2019 (English)In: Acta Ophthalmologica, ISSN 1755-375X, E-ISSN 1755-3768, Vol. 97, no S263Article in journal, Meeting abstract (Other academic) Published
Abstract [en]

Corneal dystrophies are a heterogeneous group of genetic disorders. We aimed to identify genetic cause of a dominantly inherited Epithelial Recurrent Erosion Dystrophy (ERED )‐like disease common in Northern Sweden. Examinations and interviews were performed at the Ophthalmology Clinics of the University Hospital of Umeå and Skellefteå Hospital. A total of 20 patients from Västerbotten were extensively examined and blood samples for genetic analysis collected. Four unrelated families were subject to genealogical studies. Known genes causative of corneal dystrophies were excluded by array‐based allele specific primer extension. Haplotype assessment was done by array genotyping and identification of potentially causative genomic variants by whole exome sequencing (WES ). The dystrophy common in Västerbotten has three phases; recurrent erosions during childhood, alleviated symptoms in the higher teens and finally, after the age 40, decreased visual acuity. Haplotype analysis and WES revealed a novel mutation, c.2816C>T, p.T939I, in the COL 17A1 gene coding collagen type XVII alpha1. It appeared to be a founder mutation that segregated with disease in a genealogically expanded pedigree dating back 200 years to a common ancestor, Theodor. Notably, the patients called the disease ‘Theodor's eyes’, but Theodor being unknown to them. Furthermore, COL 17A1 expression in cornea was demonstrated by RT ‐PCR and immunohistochemistry. We identified COL 17A1 mutation as a cause of ERED , revealing a novel corneal disease in Sweden, and highlighting the necessity of COL 17A1 screening in corneal dystrophies with erosions and no known genetic defect. Our genealogical analysis identified a common ancestor, Theodor, living 200 years ago.

Place, publisher, year, edition, pages
John Wiley & Sons, 2019. Vol. 97, no S263
National Category
Ophthalmology
Identifiers
URN: urn:nbn:se:umu:diva-173874DOI: 10.1111/j.1755-3768.2019.8264ISI: 000540559500377OAI: oai:DiVA.org:umu-173874DiVA, id: diva2:1456759
Available from: 2020-08-06 Created: 2020-08-06 Last updated: 2020-08-06Bibliographically approved

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Byström, Berit

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