Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation

Doc Ophthalmol. 2019 Apr;138(2):153-160. doi: 10.1007/s10633-019-09675-w. Epub 2019 Feb 1.


Purpose: To investigate a very rare case of hypotrichosis with cone-rod dystrophy caused by a P-cadherin CDH3 mutation.

Methods: A 16-year-old Syrian girl was examined at age 9 and 14 years with an ophthalmological examination, fundus imaging, OCT and electrophysiological recordings (ERG and PERG). A disease-targeted gene panel sequencing was performed.

Results: Fundus images showed pigmentations at the posterior eye pole to the mid periphery, as well as vessel tortuosity. OCT images revealed a loss of the outer retinal segments and IS/OS in the central macula. The scotopic and photopic ERGs showed moderately reduced amplitudes at age 9 years that became severely reduced at age of 14 years. The PERG was undetectable at age 9 years. In color vision testing, protan-deutan confusion errors occurred. Gene panel analysis revealed one homozygous mutation in CDH3 (c.1508G>A; p.Arg503His).

Conclusion: This case shows that a CDH3 mutation besides macula dystrophy can cause widespread cone-rod dystrophy with hypotrichosis without any other pathology besides hypoplastic nails. This points to a common pathway of hair growth and photoreceptor development that can be disturbed by a CDH3 mutation (c.1508G>A; p.Arg503His) located in the EC4 repeat region of the gene.

Keywords: CDH3; Cone-rod dystrophy; Electroretinography; Hypotrichosis.

Publication types

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

MeSH terms

  • Adolescent
  • Cadherins / genetics*
  • Cone-Rod Dystrophies / genetics*
  • Cone-Rod Dystrophies / physiopathology
  • Electroretinography
  • Female
  • Humans
  • Hypotrichosis / congenital*
  • Hypotrichosis / genetics
  • Hypotrichosis / physiopathology
  • Macular Degeneration / genetics*
  • Macular Degeneration / physiopathology
  • Mutation*
  • Retina / physiopathology
  • Tomography, Optical Coherence


  • CDH3 protein, human
  • Cadherins

Supplementary concepts

  • Juvenile macular degeneration and hypotrichosis