Corneal changes in familial iris coloboma.
We recently studied members from a family with autosomal dominant iris coloboma. All affected members had either unilateral or bilateral iris coloboma and bilateral peripheral corneal changes indistinguishable from those seen in aniridia. The corneal changes consisted of well-demarcated pannus-like growths extending from the limbus onto the peripheral cornea for 360 degrees without any stromal vascularization. In one adolescent member, bilateral lenticular opacities limited to the meridian of the colobomata were seen. No members had primary glaucoma, macular or optic disc hypoplasia, nystagmus, or extraocular malformations. The coexistence of iris coloboma and aniridia-like corneal changes may imply that ocular coloboma and aniridia comprise a continuous spectrum of the same developmental defect or, alternatively, such corneal changes constitute a nonspecific manifestation of iris developmental defects in general.
Soong
H K
HK
Raizman
M B
MB
D000293:Adolescent; D000328:Adult; D000368:Aged; D003103:Coloboma / Q000235:genetics* / Q000473:pathology; D003315:Cornea / Q000473:pathology*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D008297:Male; D010375:Pedigree