Genetic testing for achromatopsia

Abeshi A., Zulian A., Beccari T., DÜNDAR M., Falsini B., Bertelli M.

EUROBIOTECH JOURNAL, vol.1, pp.11-13, 2017 (ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 1
  • Publication Date: 2017
  • Doi Number: 10.24190/issn2564-615x/2017/s1.03
  • Journal Name: EUROBIOTECH JOURNAL
  • Journal Indexes: Emerging Sources Citation Index (ESCI)
  • Page Numbers: pp.11-13
  • Erciyes University Affiliated: Yes

Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for achromatopsia. The disease has autosomal recessive inheritance, a prevalence of 1/30000-1/50000, and is caused by mutations in the CNGB3, CNGA3, GNAT2, PDE6C, ATF6 and PDE6H genes. Clinical diagnosis is by ophthalmological examination, color vision testing and electrophysiological testing. Genetic testing is useful for confirming diagnosis and for differential diagnosis, couple risk assessment and access to clinical trials.