A new hereditary conjunctivo-corneal dystrophy associated with dermal keloid formation. Report of a family.
OBJECTIVE
To report a previously undescribed hereditary conjunctivo-corneal dystrophic disease associated with keloid formation in a woman and her two sons.


METHODS
We have been able to follow the affected members of the family with clinical examinations over many years. In addition, they have been examined with chromosome analyses and X-ray examination of their hands.


RESULTS
The mother and the oldest son have both shown a very similar clinical development, with fibrovacular tissue gradually covering the cornea, leading to severe visual loss in both eyes. In the youngest boy, the condition started at a later age, and to date only one eye is affected. All three patients have developed keloid scars on their hands.


CONCLUSIONS
The described condition seems to represent a previously unreported, autosomal dominant inherited disease. A congenital defect in the cell differentiation of the limbus region is discussed as a possible pathogenesis.
Department of Ophthalmology, University of Bergen, Norway.
O H
OH
Haugen
T
T
Bertelsen
D000293:Adolescent; D000328:Adult; D003229:Conjunctival Diseases / Q000150:complications* / Q000235:genetics / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000150:complications* / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D007627:Keloid / Q000150:complications* / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012867:Skin / Q000473:pathology*