Den genetiske baggrund for øjenmisdannelserne mikroftalmi og anoftalmi

Laura Kirstine Sønderberg Roos; Karen Grønskov; Hanne Jensen; Zeynep Tümer

Den genetiske baggrund for øjenmisdannelserne mikroftalmi og anoftalmi

Translated title of the contribution: The genetic background for the eye malformations anophthalmia and microphthalmia

Laura Kirstine Sønderberg Roos, Karen Grønskov, Hanne Jensen, Zeynep Tümer

Medical Genetics Program

1 Citation (Scopus)

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

Cite this

@article{46cccb8af4cb4fa182bf3c02020a2b3d,

title = "Den genetiske baggrund for {\o}jenmisdannelserne mikroftalmi og anoftalmi",

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.",

keywords = "Anophthalmos, Genetic Counseling, Genetic Testing, Humans, Microphthalmos, Oligonucleotide Array Sequence Analysis, Phenotype, Syndrome",

author = "Roos, {Laura Kirstine S{\o}nderberg} and Karen Gr{\o}nskov and Hanne Jensen and Zeynep T{\"u}mer",

year = "2012",

month = mar,

day = "12",

language = "Dansk",

volume = "174",

pages = "713--6",

journal = "Ugeskrift for Laeger",

issn = "0041-5782",

publisher = "Almindelige Danske Laegeforening",

number = "11",

}

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 -

Den genetiske baggrund for øjenmisdannelserne mikroftalmi og anoftalmi

Abstract

Fingerprint

Cite this