Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23

Ophthalmic Surg Lasers Imaging Retina. 2016 Feb;47(2):183-6. doi: 10.3928/23258160-20160126-14.

Abstract

Usher syndrome is an autosomal recessive condition characterized by retinitis pigmentosa (RP) and congenital hearing loss, with or without vestibular dysfunction. Allelic variants of CDH23 cause both Usher syndrome type 1D (USH1D) and a form of nonsyndromic hearing loss (DFNB12). The authors describe here a 34-year-old patient with congenital hearing loss and a new diagnosis of sector RP who was found to have two novel compound heterozygous mutations in CDH23, including one missense (c.8530C > A; p.Pro2844Thr) and one splice-site (c.5820 + 5G > A) mutation. This is the first report of sector RP associated with these types of mutations in CDH23.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cadherin Related Proteins
  • Cadherins / genetics*
  • Electroretinography
  • Female
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Mutation, Missense*
  • RNA Splice Sites*
  • Retinitis Pigmentosa / diagnosis
  • Retinitis Pigmentosa / genetics*
  • Tomography, Optical Coherence
  • Usher Syndromes / diagnosis
  • Usher Syndromes / genetics*
  • Visual Acuity / physiology
  • Visual Field Tests
  • Visual Fields / physiology

Substances

  • CDH23 protein, human
  • Cadherin Related Proteins
  • Cadherins
  • RNA Splice Sites

Supplementary concepts

  • Deafness, Autosomal Recessive 12
  • Usher Syndrome, Type ID