Programm                 "Degeneration und Regeneration– Grundlagen, Diagnostik und Therapie"


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Abstract
Abstract

Dominant Rhegmatogenous Retinal Detachment

Ebner S.1, Mohr N.2, Brunner S.2, Dithmar S.1, Weber B. H. F.2, Holz F. G.1
1Department of Ophthalmology, University of Heidelberg; 2Institute of Humangenetics, Biocenter, University of Würzburg

Purpose: So far little is known about the genetic contribution to non-syndromic rhegmatogenous retinal detachments. We recorded the phenotype in a large family with dominant rhegmatogenous retinal detachment and performed molecular genetic analyses.
Method: Seven affected members with rhegmatogenous retinal detachment and 9 unaffected members in four generations were examined. The ocular phenotype was not associated with other extraocular signs such as oro-facial, joint or hearaing abnormalities. Affected and unaffected family members were genotyped using established microsatelite markers.
Results: Known Genloci for syndromal and non-syndromal retinal detachment or myopia including 10q21 locus [OMIM #221900], 12q21-q23 locus [OMIM #603221]) and 18p11.31 locus [OMIM #160700] ) were excluded so far.
Conclusions: These preliminary date indicate genetic heterogeneity for rhegmatogenous retinal detachment or myopia. The number of the examined family members should be sufficient to localize the genetic locus by whole genome linkage analysis (best fit model: Zmax = 2.71 at theta = 0.0).


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