Isolated maculopathy associated with biallelic CRB1 mutations

Ophthalmic Genet. 2017 Mar-Apr;38(2):190-193. doi: 10.3109/13816810.2016.1155225. Epub 2016 Apr 20.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Alleles
  • Chromosomes, Human, Pair 1 / genetics
  • Electrooculography
  • Electroretinography
  • Eye Proteins / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Membrane Proteins / genetics*
  • Mutation, Missense*
  • Nerve Tissue Proteins / genetics*
  • Polymerase Chain Reaction
  • Retinal Dystrophies / diagnosis
  • Retinal Dystrophies / genetics*
  • Retinal Dystrophies / physiopathology
  • Retinal Pigment Epithelium / pathology
  • Sequence Deletion*
  • Tomography, Optical Coherence
  • Visual Acuity / physiology
  • Visual Fields / physiology

Substances

  • CRB1 protein, human
  • Eye Proteins
  • Membrane Proteins
  • Nerve Tissue Proteins