Abstract
Anophthalmia and microphthalmia (AO/MO) are rare congenital eye malformations, in which the eyeball is apparently absent or smaller than normal, which causes various degrees of visual impairment. Over 200 different AO/MO-related syndromes have been described, but the genetic background is unknown in many cases. The aim of this article is to give an overview of AO/MO, focusing on the genetic background. It is illustrated that the future identification of new AO/MO related genes will benefit in the genetic counseling of AO/MO patients, and in the understanding of eye development and congenital eye malformations.
| Translated title of the contribution | The genetic background for the eye malformations anophthalmia and microphthalmia |
|---|---|
| Original language | Danish |
| Journal | Ugeskrift for Laeger |
| Volume | 174 |
| Issue number | 11 |
| Pages (from-to) | 713-6 |
| Number of pages | 4 |
| ISSN | 0041-5782 |
| Publication status | Published - 12 Mar 2012 |