Spectral-domain optical coherence tomographic characteristics of autosomal recessive isolated foveal hypoplasia

Arch Ophthalmol. 2012 Oct;130(10):1324-7. doi: 10.1001/archophthalmol.2012.1807.
No abstract available

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Electroretinography
  • Eye Diseases, Hereditary / diagnosis*
  • Eye Diseases, Hereditary / genetics
  • Eye Proteins / genetics
  • Female
  • Fovea Centralis / abnormalities
  • Fovea Centralis / pathology*
  • Genes, Recessive*
  • Homeodomain Proteins / genetics
  • Humans
  • Male
  • Mutation
  • Nystagmus, Congenital / diagnosis*
  • Nystagmus, Congenital / genetics
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors / genetics
  • Pedigree
  • Repressor Proteins / genetics
  • Tomography, Optical Coherence*
  • Visual Acuity / physiology

Substances

  • Eye Proteins
  • Homeodomain Proteins
  • PAX6 Transcription Factor
  • PAX6 protein, human
  • Paired Box Transcription Factors
  • Repressor Proteins

Supplementary concepts

  • Foveal Hypoplasia, Isolated