Genetic testing for Doyne honeycomb retinal dystrophy


Abeshi A., Coppola P., Beccari T., DÜNDAR M. , Ziccardi L., Bertelli M.

EUROBIOTECH JOURNAL, vol.1, pp.45-47, 2017 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 1
  • Publication Date: 2017
  • Doi Number: 10.24190/issn2564-615x/2017/s1.14
  • Title of Journal : EUROBIOTECH JOURNAL
  • Page Numbers: pp.45-47

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.