MEDICAL DICTIONARY
Absent eye: Also called anophthalmia, a congenital malformation (birth defect) of the globe.
Anophthalmia refers, strictly speaking, to absence of the globe and ocular tissue from the orbit . However, in most cases of anophthalmia, CT scans show some remnants of the globe, indicating they represent severe microphthalmia (small eyes).
Anophthalmia/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 (which is due to deletion of part of the short arm of chromosome 4).
Anophthalmia comes from the Greek an-, absence + ophthalmos, eye + absence of the eye.
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