Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation
| Autor: | M Alkhateeb, Fadi Nasser, Krunoslav Stingl, E. Zrenner, Saskia Biskup, Lejla Mulahasanovic |
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| Rok vydání: | 2019 |
| Předmět: |
medicine.medical_specialty
Adolescent genetic structures Pigmentations Hypotrichosis Retina Macular Degeneration 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Physiology (medical) Ophthalmology Electroretinography Humans Medicine Scotopic vision medicine.diagnostic_test business.industry Dystrophy Retinal Cadherins medicine.disease eye diseases Sensory Systems chemistry Mutation 030221 ophthalmology & optometry Female sense organs business Erg Cone-Rod Dystrophies Tomography Optical Coherence 030217 neurology & neurosurgery Photopic vision |
| Zdroj: | Documenta Ophthalmologica. 138:153-160 |
| ISSN: | 1573-2622 0012-4486 |
| DOI: | 10.1007/s10633-019-09675-w |
| Popis: | To investigate a very rare case of hypotrichosis with cone-rod dystrophy caused by a P-cadherin CDH3 mutation. 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. 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). 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. |
| Databáze: | OpenAIRE |
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