Corneal involvement in autosomal dominant coloboma/microphthalmos.
Peripheral corneal opacification in the line of closure of the embryonic fissure associated with hyperopic astigmatism and anisometropic amblyopia was identified in two eyes of two members of a family with isolated autosomal dominant coloboma-microphthalmos. A review of the literature disclosed no previously reported cases. It would appear that the gene for isolated coloboma-microphthalmos can affect the growth and differentiation of mesenchymal cells of neural crest origin, as well as the neuroectodermal tissues of the embryonic fissure.
D000328:Adult; D000550:Amblyopia / Q000235:genetics; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003103:Coloboma / Q000235:genetics*; D003315:Cornea / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007498:Iris / Q000002:abnormalities; D008297:Male; D008850:Microphthalmos / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D012030:Refractive Errors / Q000235:genetics