Abstract
Over the last tw o decades, approximately one hundred genes have been identified,
that are associated w ith retinal dystrophies. In many patients, though, the genetic
cause is still unknown. In this thesis, w e attempted to identify new genes and
gene mutations in patients with autosomal recessive retinal dystrophies, using
homozygosity mapping and linkage analysis. We mainly focused on patients affected by cone-rod dystrophy (CRD), but also patients w ith retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) w e re included in this study.
that are associated w ith retinal dystrophies. In many patients, though, the genetic
cause is still unknown. In this thesis, w e attempted to identify new genes and
gene mutations in patients with autosomal recessive retinal dystrophies, using
homozygosity mapping and linkage analysis. We mainly focused on patients affected by cone-rod dystrophy (CRD), but also patients w ith retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) w e re included in this study.
| Original language | English |
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| Place of Publication | Nijmegen |
| Publication status | Published - 2010 |