Ophthal Medical News about retinitis pigmentosa

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A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance
Human Mutation, 07/21/09

Frio TR et al. – The results indicate that c.1374+654C>G causes retinitis pigmentosa via haploinsufficiency, similar to the vast majority of PRPF31 mutations described so far. The authors discuss the potential of UHT sequencing technologies in mutation screening and the continued identification of pathogenic splicing mutations buried deep within intronic regions.

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Macular Pigment Optical Density is Related to Serum Lutein in Retinitis Pigmentosa
Investigative Ophthalmology and Visual Science, 10/15/09 Relevance Score: 66%

Clinical and Molecular Characterization of Bardet-Biedl Syndrome in Consanguineous Populations: The Power of Homozygosity Mapping
Journal of Medical Genetics, 11/10/09 Relevance Score: 64%

Long-term follow-up of a family with dominant X-linked retinitis pigmentosa
Eye, 11/09/09 Relevance Score: 64%

Normal Central Retinal Function and Structure Preserved in Retinitis Pigmentosa
Investigative Ophthalmology and Visual Science, 10/01/09 Relevance Score: 64%

Cytomegalovirus encephalitis/retinitis in allogeneic haematopoietic stem cell transplant recipient treated successfully with combination of cidofovir and foscarnet
Pediatric Transplantation, 11/04/09 Relevance Score: 41%