Genetic testing for Mendelian glaucoma

Abeshi A., Fanelli F., Beccari T., DÜNDAR M., Ziccardi L., Bertelli M.

EUROBIOTECH JOURNAL, cilt.1, ss.70-73, 2017 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 1
  • Basım Tarihi: 2017
  • Doi Numarası: 10.24190/issn2564-615x/2017/s1.22
  • Dergi Adı: EUROBIOTECH JOURNAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI)
  • Sayfa Sayıları: ss.70-73
  • Erciyes Üniversitesi Adresli: Evet

Özet

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Mendelian glaucomas, a large heterogeneous group of inherited disorders, classified according to age of onset as congenital glaucoma, juvenile glaucoma and age-related glaucoma. Variations in the TEK, MYOC, ASB10, NTF4, OPA1, WDR36 and OPTN genes are inherited in an autosomal dominant manner and variations in the CYP1B1 and LTBP2 genes have autosomal recessive inheritance.