Den genetiske baggrund for øjenmisdannelserne mikroftalmi og anoftalmi

TY - JOUR

T1 - Den genetiske baggrund for øjenmisdannelserne mikroftalmi og anoftalmi

AU - Roos, Laura Kirstine Sønderberg

AU - Grønskov, Karen

AU - Jensen, Hanne

AU - Tümer, Zeynep

PY - 2012/3/12

Y1 - 2012/3/12

N2 - 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.

AB - 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.

KW - Anophthalmos

KW - Genetic Counseling

KW - Genetic Testing

KW - Humans

KW - Microphthalmos

KW - Oligonucleotide Array Sequence Analysis

KW - Phenotype

KW - Syndrome

M3 - Tidsskriftartikel

C2 - 22409892

SN - 0041-5782

VL - 174

SP - 713

EP - 716

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 11

ER -