Aplasia Cutis Congenita, High Myopia, And Cone-Rod Dysfunction

In a brother and sister, Gershoni-Baruch and Leibo (1996) described an apparently new autosomal recessive disorder characterized by aplasia cutis congenita (107600), high myopia, congenital nystagmus, and cone-rod dysfunction. The aplasia cutis congenita was located on the midline of the scalp vertex. Leung et al. (1988) had described 2 sibs with aplasia cutis congenita of the scalp associated with ocular defects such as myopia, keratoconus, nystagmus, atrophic irides, and atrophic pigment epithelium. Gershoni-Baruch and Leibo (1996) thought that a critical difference of those 2 sibs was their particular tendency to develop permanent atrophic linear or macular scars following minor trauma to the forearms, hands, and lower legs.