ArticleDocumenta ophthalmologica. Advances in ophthalmology2019
Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 8 citations in OpenAlex.
- Article
- The First Colombian Patient withSkin appendage disorders · 2025Article
- Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.NPJ genomic medicine · 2025Article
- Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report.BMC ophthalmology · 2021Article
- Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report.Skin appendage disorders · 2021Article
- Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
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Abstract
purposeTo investigate a very rare case of hypotrichosis with cone-rod dystrophy caused by a P-cadherin CDH3 mutation.
methodsA 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.
resultsFundus 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).
conclusionThis 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.
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