Mutations in ASCC3L1 on chromosome 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese Family
Investigative Ophthalmology and Visual Science, 09/04/2009
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Li N et al. – These results provide strong evidence that mutations in ASCC3L1 result in autosomal dominant retinitis pigmentosa in this Chinese family.
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Structural Assessment of Hyperautofluorescent Ring in Patients With Retinitis Pigmentosa
Retina, 08/04/2009
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Lima LH et al. – Disruption of the inner/outer segment junction and a decrease in outer retinal thickness were found across the central hyperautofluorescent ring seen in retinitis pigmentosa. Outer segment phagocytosis by ... formation of an hyperautofluorescent ring.
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Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex
Molecular Vision, 09/09/2009
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Zenteno JC et al. – The third known family with the syndrome of nanophthalmos–retinitis pigmentosa–foveoschisis–optic disc drusen is presented. This is the first ... described here are the youngest patients with the disease reported to date and the comparison of their clinical data with previous individuals with this syndrome suggest that some aspects of the phenotype are probably age–dependent.
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Macular Pigment Optical Density is Related to Serum Lutein in Retinitis Pigmentosa
Investigative Ophthalmology and Visual Science, 10/15/2009
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Sandberg M et al. – MPOD is independently related to serum lutein, to serum total cholesterol, to iris color, and to central foveal retinal thickness in patients with retinitis pigmentosa.
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Cytomegalovirus encephalitis/retinitis in allogeneic haematopoietic stem cell transplant recipient treated successfully with combination of cidofovir and foscarnet
Pediatric Transplantation, 11/04/2009
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Hubacek P et al. – The authors report an 18–yr–old female patient with repeated CMV reactivations after HSCT treated ... courses of virostatic therapy. Seven months after HSCT, she developed CMV encephalitis/retinitis. Initial therapy with GCV and hyperimmune globulin failed, and later on GCV–resistant strain was detected. Continual increase of CMV DNA in peripheral blood led us to combined therapy with CDV and
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Normal Central Retinal Function and Structure Preserved in Retinitis Pigmentosa
Investigative Ophthalmology and Visual Science, 10/01/2009
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Jacobson S et al. – Regional disease variation is a well–known finding in RP. Unexpected was the observation that patients with presumed recessive RP can have regions with functionally– and ... consideration in future clinical trials of either focal or systemic treatment. Whether there is a common molecular mechanism shared by forms of RP with normal regions of retina warrants further study.
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Nr2e3-directed transcriptional regulation of genes involved in photoreceptor development and cell-type specific phototransduction
Experimental Eye Research, 09/09/2009
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Haider NB et al. – These studies identified novel transcriptional pathways that are potentially targeted by Nr2e3 in the retina and specifically demonstrate a novel role for NR2E3 in regulating genes involved in phototransduction.
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NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP)
Human Mutation, 09/02/2009
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Schorderet DF et al. – The authors propose a structural localization of mutated residues. The high variability of clinical
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Mutation- and tissue-specific alterations of RPGR transcripts
Investigative Ophthalmology and Visual Science, 11/05/2009
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regulated in a tissue–dependent fashion and suggest that mutations in RPGR frequently interfere with the expression of alternative transcript isoforms. These results implicate the importance of RPGR transcript analysis in RP patients.
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