Genetic testing for Mendelian myopia


Abeshi A., Coppola P., Beccari T., DÜNDAR M. , Colombo L., Bertelli M.

EUROBIOTECH JOURNAL, vol.1, pp.74-76, 2017 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 1
  • Publication Date: 2017
  • Doi Number: 10.24190/issn2564-615x/2017/s1.23
  • Title of Journal : EUROBIOTECH JOURNAL
  • Page Numbers: pp.74-76

Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Mendelian myopia ( MM), a large and heterogeneous group of inherited refraction disorders. Variations in the SLC39A5, SCO2 and COL2A1 genes have an autosomal dominant transmission, whereas those in the LRPAP1, P3H2, LRP2 and SLITRK6 genes have autosomal recessive transmission. The prevalence of MM is currently unknown.