Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness

JAMA Ophthalmol. 2015 Aug;133(8):967-8. doi: 10.1001/jamaophthalmol.2015.1463.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Audiometry
  • Bardet-Biedl Syndrome / genetics*
  • DNA Mutational Analysis
  • Exome / genetics
  • GTP Phosphohydrolases / genetics
  • Guanylate Cyclase / genetics
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Kinesins / genetics
  • Male
  • Membrane Transport Proteins / genetics*
  • Microtubule-Associated Proteins / genetics*
  • Mutation*
  • Polymerase Chain Reaction
  • Receptors, Cell Surface / genetics
  • Retinitis Pigmentosa / genetics*
  • Sulfate Transporters
  • Usher Syndromes / genetics*
  • Visual Acuity / physiology

Substances

  • Bbs1 protein, human
  • KIF7 protein, human
  • Membrane Transport Proteins
  • Microtubule-Associated Proteins
  • Receptors, Cell Surface
  • SLC26A4 protein, human
  • Sulfate Transporters
  • guanylate cyclase 1
  • GTP Phosphohydrolases
  • OPA1 protein, human
  • Kinesins
  • Guanylate Cyclase