Universität zu Köln

Kersten, Eveline, Geerlings, Maartje J., Pauper, Marc, Corominas, Jordi, Bakker, Bjorn, Altay, Lebriz, Fauser, Sascha, de Jong, Eiko K., Hoyng, Carel B. and den Hollander, Anneke I. (2018). Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration. Clin. Genet., 94 (6). S. 569 - 575. HOBOKEN: WILEY. ISSN 1399-0004

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Abstract

It can be clinically challenging to distinguish dry age-related macular degeneration (AMD) from AMD-mimicking dystrophies, and sometimes misdiagnosis occurs. With upcoming therapies for dry AMD it is important to exclude patients with a different retinal disease from clinical trials. In this study we evaluated the occurrence of AMD-mimicking dystrophies in an AMD cohort. Whole-exome sequencing (WES) was performed in 218 patients with intermediate AMD or geographic atrophy secondary to AMD and 133 control individuals. WES data was analyzed for rare variants in 19 genes associated with autosomal dominant and recessive macular dystrophies mimicking AMD. In three (1.4%) of 218 cases we identified a pathogenic heterozygous variant (PRPH2 c.424C > T; p.R142W) causal for autosomal dominant central areolar choroidal dystrophy (CACD). Phenotypically, these patients all presented with geographic atrophy. In 12 (5.5%) of 218 cases we identified a heterozygous variant of unknown clinical significance, but predicted to be highly deleterious, in genes previously associated with autosomal dominant macular dystrophies. The distinction between AMD and AMD-mimicking dystrophies, such as CACD, can be challenging based on fundus examination alone. Genetic screening for genes associated with macular dystrophies, especially PRPH2, can be beneficial to help identify AMD-mimicking dystrophies.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Kersten, Eveline UNSPECIFIED UNSPECIFIED UNSPECIFIED Geerlings, Maartje J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Pauper, Marc UNSPECIFIED UNSPECIFIED UNSPECIFIED Corominas, Jordi UNSPECIFIED UNSPECIFIED UNSPECIFIED Bakker, Bjorn UNSPECIFIED UNSPECIFIED UNSPECIFIED Altay, Lebriz UNSPECIFIED UNSPECIFIED UNSPECIFIED Fauser, Sascha UNSPECIFIED UNSPECIFIED UNSPECIFIED de Jong, Eiko K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoyng, Carel B. UNSPECIFIED UNSPECIFIED UNSPECIFIED den Hollander, Anneke I. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-164743
DOI:	10.1111/cge.13447
Journal or Publication Title:	Clin. Genet.
Volume:	94
Number:	6
Page Range:	S. 569 - 575
Date:	2018
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1399-0004
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language AREOLAR CHOROIDAL DYSTROPHY; VARIANTS Multiple languages Genetics & Heredity Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/16474