title: DNA carrier detection in X-linked progressive cone dystrophy.
abstract: X-linked progressive cone dystrophy (XLPCD) is characterized by progressive macular atrophy, abnormal colour vision, reduced cone responses in ERG, and reduced visual acuity. XLPCD may be genetically heterogeneous. Therefore, carrier detections by DNA analysis may only be carried out in those families in which the position of the gene locus can be clearly established. Here, we describe the first DNA carrier detections in XLPCD.
authors.affiliation: The Netherlands Ophthalmic Research Institute, Amsterdam.
authors.forename: A A
authors.initials: AA
authors.lastname: Bergen
authors.forename: F
authors.initials: F
authors.lastname: Meire
authors.forename: E J
authors.initials: EJ
authors.lastname: Schuurman
authors.forename: J W
authors.initials: JW
authors.lastname: Delleman
mesh_terms: D004247:DNA / Q000032:analysis*; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*; D014960:X Chromosome
chemical_list: D004247:DNA