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Updated: May 24, 2026

Assessment and Characterization of Hyaloid Vessels in Mice
Published on: May 15, 2019
[The genetic background for the eye malformations anophthalmia and microphthalmia]
Laura Sønderberg Roos1, Karen Grønskov, Hanne Jensen
1Center for Applied Human Molecular Genetics, Kennedy Centret, Gamle Landevej 7, 2600 Glostrup, Denmark. lar@kennedy.dk
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.
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