Genetic testing and counselling in inherited eye disease

Karen Brøndum-Nielsen; Hanne Jensen; Susanne Timshel; Karen Grønskov; Michael Larsen

Genetic testing and counselling in inherited eye disease

Translated title of the contribution: Genetic testing and counselling in inherited eye disease.

Karen Brøndum-Nielsen, Hanne Jensen, Susanne Timshel, Karen Grønskov, Michael Larsen

Abstract

Advances in genetics have made genetic testing in patients with inherited eye disease increasingly accessible, and the initiation of clinical intervention trials makes it increasingly clinically relevant. Based on a multidisciplinary collaboration between ophthalmologists and clinical geneticists, the extensive register of families with monogenic inherited eye diseases at the National Eye Clinic of the Kennedy Center in Denmark provides a valuable asset waiting to be exploited in the global effort to reduce blindness caused by genetic defects.

Translated title of the contribution	Genetic testing and counselling in inherited eye disease.
Original language	Danish
Journal	Ugeskrift for Laeger
Volume	175
Issue number	36
Pages (from-to)	2031-2034
Number of pages	4
ISSN	0041-5782
Publication status	Published - 2 Sept 2013

Cite this

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title = "Genetic testing and counselling in inherited eye disease",

abstract = "Advances in genetics have made genetic testing in patients with inherited eye disease increasingly accessible, and the initiation of clinical intervention trials makes it increasingly clinically relevant. Based on a multidisciplinary collaboration between ophthalmologists and clinical geneticists, the extensive register of families with monogenic inherited eye diseases at the National Eye Clinic of the Kennedy Center in Denmark provides a valuable asset waiting to be exploited in the global effort to reduce blindness caused by genetic defects.",

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T1 - Genetic testing and counselling in inherited eye disease

AU - Brøndum-Nielsen, Karen

AU - Jensen, Hanne

AU - Timshel, Susanne

AU - Grønskov, Karen

AU - Larsen, Michael

PY - 2013/9/2

Y1 - 2013/9/2

N2 - Advances in genetics have made genetic testing in patients with inherited eye disease increasingly accessible, and the initiation of clinical intervention trials makes it increasingly clinically relevant. Based on a multidisciplinary collaboration between ophthalmologists and clinical geneticists, the extensive register of families with monogenic inherited eye diseases at the National Eye Clinic of the Kennedy Center in Denmark provides a valuable asset waiting to be exploited in the global effort to reduce blindness caused by genetic defects.

AB - Advances in genetics have made genetic testing in patients with inherited eye disease increasingly accessible, and the initiation of clinical intervention trials makes it increasingly clinically relevant. Based on a multidisciplinary collaboration between ophthalmologists and clinical geneticists, the extensive register of families with monogenic inherited eye diseases at the National Eye Clinic of the Kennedy Center in Denmark provides a valuable asset waiting to be exploited in the global effort to reduce blindness caused by genetic defects.

UR - https://www.scopus.com/pages/publications/84890705402

M3 - Tidsskriftartikel

C2 - 23992910

SN - 0041-5782

VL - 175

SP - 2031

EP - 2034

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 36

ER -

Genetic testing and counselling in inherited eye disease

Abstract

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