Genetic testing for X-linked juvenile retinoschisis

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

EUROBIOTECH JOURNAL, cilt.1, ss.111-113, 2017 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 1
  • Basım Tarihi: 2017
  • Doi Numarası: 10.24190/issn2564-615x/2017/s1.35
  • Dergi Adı: EUROBIOTECH JOURNAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI)
  • Sayfa Sayıları: ss.111-113
  • Erciyes Üniversitesi Adresli: Evet

Özet

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for X-linked juvenile retinoschisis (XJR). The disease has X-linked inheritance, a prevalence that varies from one in 5000 to one in 25000 males, and is caused by mutations in the RS1 gene. Clinical diagnosis is based on clinical findings, ophthalmological examination, electroretinography and optical coherence tomography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.