Aplasia cutis myopia
Overview
A very rare syndrome characterized by a skin defect (localized absence of skin at birth) and nearsightedness and other eye anomalies. Aplasia cutis congenita, high myopia, and cone-rod dysfunction in two sibs: A new autosomal recessive disorder.
Symptoms
- Nearsightedness
- Aplasia cutis congenita
- Congenital nystagmus
- Cone-rod dysfunction