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CDH3 Retinopathy: Long-Term Multimodal Follow-Up with Pediatric Multidisciplinary Insights
Elisa Marziali1, Chiavetta Elia1, Sara Bargiacchi2
1Pediatric Ophthalmology, Meyer Children's Hospital IRCCS, Viale Pieraccini 24, 50139 Florence, Italy.
Journal of Clinical Medicine
|July 28, 2026
Summary
This study details two pediatric cases of CDH3-related retinopathy, highlighting a characteristic multimodal imaging pattern and slow visual decline. Comprehensive, long-term follow-up is crucial for understanding this rare cadherinopathy and guiding future gene therapies.
Area of Science:
- Ophthalmology
- Genetics
- Dermatology
Background:
- CDH3 (Cadherin-3) mutations cause rare cadherinopathies.
- Congenital hypotrichosis and early-onset macular dystrophy are key clinical features.