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Cet abstract a été assigné à session BOG-SBO: Medisch netvlies/ Rétine médicale
TitreAutosomal dominant retinitis pigmentosa: evidence for genetic heterogeneity at chromosome 17q23
Abstract Nr.243
ButRetinitis pigmentosa (RP) is a heterogeneous group of inherited progressive retinal disorders affecting approximately 1,5 million people worldwide. It is characterized by night blindness, progressive loss of peripheral visual field, usually followed by loss of central vision. To date, 26 genes involved in RP have been identified, 13 of which are inherited in an autosomal dominant manner. We present a Dutch family with autosomal dominant RP which shows linkage to the RP17 locus at chromosome 17q23. The RP17 locus was initially identified in a South African family with autosomal dominant RP, and recently a causative mutation was identified in the CA4 gene. However, we excluded the involvement of the CA4 gene in the Dutch family, providing evidence for genetic heterogeneity for autosomal dominant RP at 17q23. Phenotypic characteristics of the two families are compared and future therapeutic perspectives for RP are outlined.
Auteur 1
NomBOON
InitialesCJF
InstitutRadboud University Medical Centre, Department of Ophthalmology
VilleNijmegen
Auteur 2
NomDeEN HOLLANDER
InitialesAI
InstitutRadboud University Medical Centre, Department of Human Genetics
VilleNijmegen
Auteur 3
NomKERSTEN
InitialesFFJ
InstitutRadboud University Medical Centre, Department of Human Genetics
VilleNijmegen
Auteur 4
NomARENDS
InitialesML
InstitutRadboud University Medical Centre, Department of Human Genetics
VilleNijmegen
Auteur 5
NomHOYNG
InitialesCB
InstitutRadboud University Medical Centre, Department of Ophthalmology
VilleNijmegen
Auteur 6
NomCREMERS
InitialesFPM
InstitutRadboud University Medical Centre, Department of Human Genetics
VilleNijmegen
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