Ectrodactyly-ectodermal dysplasia-clefting syndrome, the result of a mutation in the gene encoding tumor protein p63, causes ocular surface disease. It is typically progressive, with vision loss in adulthood. We present a case of severe corneal disease, glaucoma, and blindness related to ectrodactyly- ectodermal dysplasia-clefting syndrome in a 3-year-old female patient.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health