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Long-term follow-up of a family with dominant X-linked retinitis pigmentosa
Eye, 11/09/09

Wu DM et al. – This insertion mutation in the RPGRexon ORF15 is associated with a RP phenotype that severely affects males early and females by 30 years of age, and is highly penetrant in female members. Families with dominant–acting RPGRmutations may be mistaken to have an autosomal mode of inheritance resulting in an incorrect prediction of recurrence risk and prognosis. Broader recognition of X–linked RP forms with dominant inheritance is necessary to facilitate appropriate counselling of these patients.

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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: 83%

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: 82%

Normal Central Retinal Function and Structure Preserved in Retinitis Pigmentosa
Investigative Ophthalmology and Visual Science, 10/01/09 Relevance Score: 82%

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: 80%

Mutation- and tissue-specific alterations of RPGR transcripts
Investigative Ophthalmology and Visual Science, 11/05/09 Relevance Score: 77%