The disorder begins in the first year of life with a band of vascularized opacification inside the limbus. Evidence of inflammation is seen in the anterior stroma and the Bowman membrane becomes replaced by fibrovascular tissue. The disease is recurrent and progressive and there is usually asymmetry between the two eyes. Non-penetrance and considerable variation in expression have been reported. Acute episodes are characterized by photophobia, tearing, mucous discharge, and punctate keratitis. The limbal opacification may progress centrally and eventually leads to a reduction in vision. Deficits in visual acuity may lead to deprivation amblyopia and secondary esotropia.
In a 4 generation family, foveal hypoplasia, iris stromal defects, and ectropion uveae were seen in several of the fifteen affected individuals. It has been suggested that this may be a variant of aniridia.