Universität zu Köln

Preising, M. N. and Bolz, H. J. (2017). Segregation Analysis in Inherited Eye Disorders: An Academic Add-on or An Essential Effort? Klinische Monatsblat. Augenheilkunde, 234 (3). S. 272 - 280. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-3999

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Abstract

The knowledge of the genetic basis of many eye diseases is constantly increasing. Besides retinal degeneration, developmental defects of the anterior segment, cataracts, and the development of the basic structure are often associated with genetic defects. Moreover, a lot of genetic syndromes involve eye abnormalities. The impact of genetics has become more and more evident in ophthalmological practice. Although genetic counselling is usually carried out by human geneticists, the increasing availability of therapeutic options requires ophthalmologists to have some basic knowledge of the genetic causes and how to identify them. The first step in this regard is to recognise potential genetic eye disorders and to initiate an adequate genetic analysis to confirm the diagnosis. This review discusses possible and necessary investigations within the patient's family facing ophthalmologists after the genetic cause of an eye disease has been identified.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Preising, M. N. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bolz, H. J. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-237047
DOI:	10.1055/s-0043-101818
Journal or Publication Title:	Klinische Monatsblat. Augenheilkunde
Volume:	234
Number:	3
Page Range:	S. 272 - 280
Date:	2017
Publisher:	GEORG THIEME VERLAG KG
Place of Publication:	STUTTGART
ISSN:	1439-3999
Language:	German
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language RETINITIS-PIGMENTOSA; FUNDUS AUTOFLUORESCENCE; PSYCHOPHYSICAL DATA; 19Q13.4 RP11; MUTATIONS; GENE; CHROMOSOME; DOMINANT; CARRIERS; DISEASE Multiple languages Ophthalmology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/23704