[Granular dystrophy: Not always easy to classify]

J Fr Ophtalmol. 2020 Dec;43(10):e361-e363. doi: 10.1016/j.jfo.2020.02.028. Epub 2020 Oct 20.
[Article in French]
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Amino Acid Substitution
  • Corneal Dystrophies, Hereditary / classification*
  • Corneal Dystrophies, Hereditary / complications
  • Corneal Dystrophies, Hereditary / diagnosis*
  • Corneal Dystrophies, Hereditary / genetics
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Humans
  • Mutation, Missense
  • Transforming Growth Factor beta1 / analysis
  • Transforming Growth Factor beta1 / genetics
  • Vision Disorders / diagnosis
  • Vision Disorders / etiology
  • Vision Disorders / genetics

Substances

  • TGFB1 protein, human
  • Transforming Growth Factor beta1

Supplementary concepts

  • Corneal dystrophy Avellino type