Xu et al. (1996) studied a large Danish family of 7 generations in which autosomal dominant retinitis pigmentosa segregated. Clinical diagnosis was based on a history of night blindness and ocular fundus findings typical of retinitis pigmentosa and ... Xu et al. (1996) studied a large Danish family of 7 generations in which autosomal dominant retinitis pigmentosa segregated. Clinical diagnosis was based on a history of night blindness and ocular fundus findings typical of retinitis pigmentosa and included peripheral bone spicule formation, severe constriction of retinal arterioles, and progressive visual field defects beginning as midperipheral ring scotomas. Pathologic dark adaptation did not occur until the end of the first decade.
Chakarova et al. (2002) screened the PRPF3 gene, which they called HPRP3, in 3 chromosome 1q-linked RP families. Two different missense mutations in 2 English families, a Danish family, and in 3 RP individuals were identified. One of ... Chakarova et al. (2002) screened the PRPF3 gene, which they called HPRP3, in 3 chromosome 1q-linked RP families. Two different missense mutations in 2 English families, a Danish family, and in 3 RP individuals were identified. One of the mutations (T494M; 607301.0001) was seen repeatedly in apparently unlinked families, raising the possibility of a mutation hotspot. Haplotype analysis with PRPF3 SNPs supported multiple origins for the mutation. The altered amino acids, which are highly conserved in all known PRPF3 orthologs, suggested a major function of that domain in the splicing process. Although PRPF3 appears to be ubiquitously expressed, the authors speculated that a retina-specific splicing element may interact with PRPF3 and generate the rod photoreceptor-specific phenotype.