X-Linked Corneal Dermoids Maps to Xq24-Xter

Abstract

Corneal Dermoid (CD, MIM#304730) is a rare congenital tumor confined to the cornea. The tumor is composed of ectodermal and mesodermal tissues combined in different proportions. Most cases are sporadic and unilateral. We have studied a unique family, originally described by our center, of which only males presented with bilateral central corneal opacification at birth with no other systemic abnormalities. Histological feature consisted mainly of dermis-like tissue rich in blood capillaries. Left untreated, these tumors result in blindness and cases that were treated by surgery, occasionally followed by corneal transplantation, did not result in optimal vision.

Here we report the first evidence of linkage for X-linked CD to Xq24-Xter, telomeric to DXS1001, an interval of 38 CM, in an extended Puerto Rican family.