<abstract xmlns="http://www.w3.org/1999/xhtml"><p> We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Doyne honeycomb retinal dystrophy (DHRD). The disease has an autosomal dominant inheritance and is caused by variations in the EFEMP1 gene. There is insufficient data to establish the prevalence of DHRD. Clinical diagnosis is based on clinical findings, ophthalmological examination, electroretinography, fluorescein angiography and optical coherence tomography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.</p></abstract>

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Doyne honeycomb retinal dystrophy (DHRD). The disease has an autosomal dominant inheritance and is caused by variations in the EFEMP1 gene. There is insufficient data to establish the prevalence of DHRD. Clinical diagnosis is based on clinical findings, ophthalmological examination, electroretinography, fluorescein angiography and optical coherence tomography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

Genetic testing for Doyne honeycomb retinal dystrophy

The EuroBiotech Journal

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

{"article-title":"Genetic testing for Doyne honeycomb retinal dystrophy"}

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Doyne honeycomb retinal dystrophy...

Genetic testing for Doyne honeycomb retinal dystrophy

Publié en ligne: 27 oct. 2017

Pages: 45 - 47

DOI: https://doi.org/10.24190/ISSN2564-615X/2017/S1.14

© 2018

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.