Keratoglobus and blue sclera.
Five patients from two families had similar features including keratoglobus, blue scleras, hyperextensibility of the hand, wrist, and ankle joints, sensorineural conduction hearing alterations, and mottling of the teeth. Keratoglobus had been observed in all patients at, or shortly after, birth. Corneal perforations developed in seven of the ten eyes after minimal trauma. Repair of these perforations was complicated by the extremely thin corneas and six eyes had to be either enucleated or eviscerated. Histopathological examination of two of the enucleated eyes showed the corneal stromas of both eyes to be estremely thin, Bowman's membrane was absent, and Descemet's membrane was unusually thick. This condition has an autosomal-recessive inheritance pattern.
D000293:Adolescent; D000328:Adult; D003116:Color; D003315:Cornea / Q000473:pathology; D003316:Corneal Diseases / Q000235:genetics* / Q000473:pathology; D004848:Epithelium / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D012590:Sclera