Definition of Microphthalmia

Eye Diseases and Conditions Slideshow

Microphthalmia: An abnormally small eye, a congenital malformation (birth defect) of the globe.

The related term "anophthalmia" means no eye and refers to absence of the globe and ocular tissue from the orbit.

Microphthalmia may involve one or both eyes. It may occur in isolation with no associated malformations or it may be part of a multiple congenital malformation syndrome as, for example, the congenital rubella syndrome, the triploidy syndrome (due to the presence of 69 chromosomes), the trisomy 13 syndrome (Patau syndrome, due to an extra chromosome 13), and the Wolf-Hirschorn syndrome (due to deletion of part of the short arm of chromosome 4).

Also called microphthalmos. From micro- + the Greek ophthalmos, eye.