Genetic testing for Refsum disease


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

EUROBIOTECH JOURNAL, vol.1, pp.89-91, 2017 (ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 1
  • Publication Date: 2017
  • Doi Number: 10.24190/issn2564-615x/2017/s1.28
  • Journal Name: EUROBIOTECH JOURNAL
  • Journal Indexes: Emerging Sources Citation Index (ESCI)
  • Page Numbers: pp.89-91
  • Erciyes University Affiliated: Yes

Abstract

We reviewed the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Refsum disease. The disease has autosomal recessive inheritance, unknown prevalence, and is caused by variations in PEX7 and PHYH genes. Clinical diagnosis is based on clinical findings, ophthalmological examination, electroretinography, optical coherence tomography and phytanic acid assay. The genetic test is useful for confirming diagnosis, for differential diagnosis, couple risk assessment and access to clinical trials.