Primary familial amyloidosis of the cornea.
A case of primary familial amyloidosis of the cornea in a 13-year-old boy was confirmed by histopathologic examination of material obtained by penetrating keratoplasty. Elevated subepithelial nodules of amyloid were present centrally. Extensive nonelevated subepithelial amyloid deposition was present in areas where either clinically gray, nonelevated subepithelial opacities or apparently normal cornea was present. Nonelevated subepithelial corneal deposits clinically similar to amyloid deposits in the proband were present in two siblings. The genetic pattern of the corneal amyloid deposits in this family appears to be autosomal recessive. Cataracts were present in two of the three affected members. Aspirated lens material from two of the affected members did not contain amyloid.
D000293:Adolescent; D000686:Amyloidosis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002386:Cataract / Q000235:genetics; D002648:Child; D003315:Cornea / Q000473:pathology; D003316:Corneal Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D003318:Corneal Opacity / Q000235:genetics / Q000473:pathology; D004848:Epithelium / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male