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

Authors

Nasser F1, Mulahasanovic L2,3, Alkhateeb M5, Biskup S2,3,Stingl K5, Zrenner E5,6.
  1. Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Elfriede-Aulhorn Strasse 7, 72076, Tübingen, Germany. fadi.nasser@med.uni-tuebingen.de.
  2. Praxis for Human Genetics, Tübingen, Germany.
  3. CeGaT GmbH, Tübingen, Germany.
  4. Eye and Ear Specialty Hospital, Damascus, Syria.
  5. Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Elfriede-Aulhorn Strasse 7, 72076, Tübingen, Germany.
  6. Werner Reichardt Center for Integrative Neuroscience (CIN), University of Tuebingen, Tübingen, Germany.

Abstract

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).

CONCLUSIONS:

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.