Top retinitis Articles in Ophthalmology

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

Li N et al. – These results provide strong evidence that mutations in ASCC3L1 result in autosomal dominant retinitis pigmentosa in this Chinese family. [more...]

Structural Assessment of Hyperautofluorescent Ring in Patients With Retinitis Pigmentosa
Retina, 08/04/2009

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. [more...]

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

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. [more...]

Molecular characterization of retinitis pigmentosa in Saudi Arabia
Molecular Vision, 11/24/2009

Aldahmesh MA et al. – Homozygosity mapping is an extremely robust approach in the study of retinitis pigmentosa in the setting of high rates of consanguinity. BBS3 mutations can rarely present as nonsyndromic RP. [more...]

Macular Pigment Optical Density is Related to Serum Lutein in Retinitis Pigmentosa
Investigative Ophthalmology and Visual Science, 10/15/2009

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. [more...]

Long-term follow-up of a family with dominant X-linked retinitis pigmentosa
Eye, 11/09/2009

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 ... 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. [more...]

Cytomegalovirus encephalitis/retinitis in allogeneic haematopoietic stem cell transplant recipient treated successfully with combination of cidofovir and foscarnet
Pediatric Transplantation, 11/04/2009

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 [more...]

Normal Central Retinal Function and Structure Preserved in Retinitis Pigmentosa
Investigative Ophthalmology and Visual Science, 10/01/2009

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. [more...]

Nr2e3-directed transcriptional regulation of genes involved in photoreceptor development and cell-type specific phototransduction
Experimental Eye Research, 09/09/2009

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. [more...]

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

Schorderet DF et al. – The authors propose a structural localization of mutated residues. The high variability of clinical [more...]