title: [The genetic background for the eye malformations anophthalmia and microphthalmia].
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.
authors.affiliation: Center for Applied Human Molecular Genetics, Kennedy Centret, Gamle Landevej 7, 2600 Glostrup, Denmark. lar@kennedy.dk
authors.forename: Laura Sønderberg
authors.initials: LS
authors.lastname: Roos
authors.forename: Karen
authors.initials: K
authors.lastname: Grønskov
authors.forename: Hanne
authors.initials: H
authors.lastname: Jensen
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
mesh_terms: D000853:Anophthalmos / Q000175:diagnosis / Q000235:genetics*; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D008850:Microphthalmos / Q000175:diagnosis / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D013577:Syndrome