Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family

Ophthalmic Genet. Jan-Feb 2018;39(1):131-134. doi: 10.1080/13816810.2017.1318925. Epub 2017 May 8.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged, 80 and over
  • Consanguinity*
  • DNA-Binding Proteins / genetics*
  • Electroretinography
  • Female
  • Germany
  • Homozygote
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Retina / physiopathology
  • Retinal Degeneration / diagnosis
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / physiopathology
  • Siblings
  • Tomography, Optical Coherence
  • Visual Acuity / physiology
  • Visual Field Tests
  • Visual Fields / physiology

Substances

  • DNA-Binding Proteins
  • SPATA7 protein, human