Publication
Title
Unilateral Coats'-like disease and an intragenic deletion in the TERC gene : a case report
Author
Abstract
We report a case of a 25-year-old woman with unilateral Coats'-like disease. Her brother was previously diagnosed with an autosomal dominant form of dyskeratosis congenita. Genetic testing was performed by screening the TERC gene for mutations and identified heterozygosity for the n.68_124del mutation. Our case demonstrates that the exudative retinopathy seen in Coats'-like disease can be caused by mutations in a telomere-capping gene TERC as a part of the dyskeratosis congenita spectrum without other systemic involvement. This is an interesting case that illustrates that retinal Coats'-like involvement can be the first manifestation of dyskeratosis congenita.
Language
English
Source (journal)
Ophthalmic genetics. - Buren
Publication
Buren : 2018
ISSN
1381-6810
Volume/pages
39 :2 (2018) , p. 247-250
ISI
000426109100016
Pubmed ID
29161159
Full text (Publisher's DOI)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 29.03.2018
Last edited 16.09.2021
To cite this reference