Hypotrichosis with juvenile macular dystrophy

The rare syndrome of hypotrichosis with juvenile macular dystrophy is characterized by short, sparse hair from birth and progressive macular dystrophy, as well as blindness.

The affected have as infants short and sparse scalp hair, which does not grow in the course of life. Due to the progressive macular dystrohy, from the age of 10-30, vision severely decreases, which sooner or later leads to complete blindness. In part, the syndrome is also associated with malformations of the limbs.

The cause of the disease are mutations in the CDH3 gene, which encodes P-cadherin. P-cadherin is located in the epithelium of hair follicles, as well as in the pigment epithelium of the retina.