Ophthalmological findings in ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome: a case report

Achados oftalmológicos na displasia ectodérmica, ectrodactilia e síndrome da distrofia macular: relato de caso

ABSTRACT

We report on a case of two sisters, daughters of consanguineous parents, presenting with a similar condition of low visual acuity associated with retinal dystrophy in both eyes associated with alopecia and bone alterations or syndactyly.

Keywords:
Ectodermal dysplasia/genetics; Syndactyly; Alopecia; Retina/abnormalities; Retinal dystrophy; Hand deformities, congenital/genetics; Syndrome