Genetic testing for enhanced S-cone syndrome

Abeshi A., Marinelli C., Beccari T., DÜNDAR M., D'Esposito F., Bertelli M.

EUROBIOTECH JOURNAL, vol.1, pp.48-50, 2017 (ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 1
  • Publication Date: 2017
  • Doi Number: 10.24190/issn2564-615x/2017/s1.15
  • Journal Name: EUROBIOTECH JOURNAL
  • Journal Indexes: Emerging Sources Citation Index (ESCI)
  • Page Numbers: pp.48-50
  • Erciyes University Affiliated: Yes

Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for enhanced S-cone syndrome (ESCS). The disease has autosomal recessive inheritance, a prevalence of less than one per million, and is caused by mutations in the NR2E3 gene. Clinical diagnosis is based on clinical findings, ophthalmological examination, electroretinography, color vision testing and optical coherence tomography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.