Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy

Ophthalmology. 2021 Jun;128(6):952-955. doi: 10.1016/j.ophtha.2020.10.032. Epub 2020 Nov 1.
No abstract available

Keywords: Electrooculography; Electroretinography; Macular degeneration; Macular pattern dystrophy; Retina; Retinal dystrophies.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • DNA / genetics*
  • DNA Mutational Analysis
  • Electroretinography
  • Female
  • Humans
  • Macular Degeneration / diagnosis
  • Macular Degeneration / genetics*
  • Macular Degeneration / metabolism
  • Male
  • Middle Aged
  • Mutation*
  • Pedigree
  • Retrospective Studies
  • Tomography, Optical Coherence
  • Young Adult
  • alpha Catenin / genetics*
  • alpha Catenin / metabolism

Substances

  • CTNNA1 protein, human
  • alpha Catenin
  • DNA