View abstract

This abstract is assigned to session BOG-SBO: Medisch netvlies/ Rétine médicale

Title	Autosomal dominant retinitis pigmentosa: evidence for genetic heterogeneity at chromosome 17q23
Abstract Nr.	243

Purpose

Retinitis 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.

Author 1

Last name	BOON
Initials	CJF
Department	Radboud University Medical Centre, Department of Ophthalmology
City	Nijmegen

Author 2

Last name	DeEN HOLLANDER
Initials	AI
Department	Radboud University Medical Centre, Department of Human Genetics
City	Nijmegen

Author 3

Last name	KERSTEN
Initials	FFJ
Department	Radboud University Medical Centre, Department of Human Genetics
City	Nijmegen

Author 4

Last name	ARENDS
Initials	ML
Department	Radboud University Medical Centre, Department of Human Genetics
City	Nijmegen

Author 5

Last name	HOYNG
Initials	CB
Department	Radboud University Medical Centre, Department of Ophthalmology
City	Nijmegen

Author 6

Last name	CREMERS
Initials	FPM
Department	Radboud University Medical Centre, Department of Human Genetics
City	Nijmegen

top ^

E-mail:

Remember my credentials