Atypical presentation of CRB1 retinopathy

Acta Ophthalmol. 2016 Sep;94(6):e513-4. doi: 10.1111/aos.12997. Epub 2016 Feb 23.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Arthritis, Juvenile / diagnosis*
  • Electroretinography
  • Eye Diseases, Hereditary / diagnosis*
  • Eye Diseases, Hereditary / genetics*
  • Eye Proteins / genetics*
  • Humans
  • Infant
  • Macular Edema / diagnosis*
  • Male
  • Membrane Proteins / genetics*
  • Mutation, Missense*
  • Nerve Tissue Proteins / genetics*
  • Polymerase Chain Reaction
  • Retinal Dystrophies / diagnosis*
  • Retinal Dystrophies / genetics*
  • Tomography, Optical Coherence

Substances

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

Supplementary concepts

  • Retinal Dystrophy, Early Onset Severe