Disease relevance of Retinal Diseases

• These data raise the possibility that RNR acts to regulate the visual cycle through its interaction with cellular retinaldehyde binding protein and therefore may be a target for retinal diseases such as retinitis pigmentosa and age-related macular degeneration [1].
• The autosomal recessive mouse mutation retinal degeneration 6 (rd6) causes small, white retinal spots and progressive photoreceptor degeneration similar to that observed in human flecked retinal diseases [2].
• Neovascularization stimulated by VEGF occurs in several important clinical contexts, including myocardial ischemia, retinal disease, and tumor growth [3].
• Naturally occurring point mutations in the opsin gene cause the retinal diseases retinitis pigmentosa and congenital night blindness [4].
• In conclusion, the presence of advanced retinal disease with or without hypertension in patients with IDDM indicates a greater likelihood of advanced nephropathy as evidenced by increased VvMes/Glom and decreased SvPGBM/Glom [5].

High impact information on Retinal Diseases

• Retinitis pigmentosa is an untreatable, inherited retinal disease that leads to blindness [6].
• To better understand the functional and structural role of rhodopsin in the normal retina and in the pathogenesis of retinal disease, we generated mice carrying a targeted disruption of the rhodopsin gene [7].
• Degeneration of photoreceptors in a retinal disease, retinitis pigmentosa, can be caused by the introduction of a mutated opsin gene into mice [8].
• Rhodopsin C terminus, the site of mutations causing retinal disease, regulates trafficking by binding to ADP-ribosylation factor 4 (ARF4) [9].
• Simple and complex ABCR: genetic predisposition to retinal disease [10].

Chemical compound and disease context of Retinal Diseases

• Cosegregation of RP with gln64-to-ter, gly106-to-arg, arg135-to-gly, cys140-to-ser, gly188-to-glu, his211-to-arg, and the splice site guanosine-to-thymidine indicates that these mutations are likely to cause retinal disease [11].
• Suppression of autoimmune retinal disease by lovastatin does not require Th2 cytokine induction [12].
• PURPOSE: Low concentrations of excitotoxic agents such as glutamate decrease survival of retinal ganglion cells (RGCs) and may be an important cause of RGC death in a variety of retinal diseases [13].
• Recordings of the ERC from normal and mutant mice may provide a useful tool for the analysis of models of retinal disease, as well as exploration of the molecular origin of light-activated Ca(2+) release [14].
• We suggest that the rat urethane retinopathy models the plasticity of BRB components--RPE and endothelia--over the course of retinal disease [15].

Biological context of Retinal Diseases

• Finally, the Nir1-encoding gene is located at human chromosome 17p13.1, in proximity to a locus responsible for several human retinal diseases [16].
• These findings raise the possibility that multiple classes of structural perturbation are produced by inherited defects in peripherin/rds and contribute to the observed heterogeneity of retinal disease phenotypes [17].
• Cell counts in WT and C3-/- eyes decreased thereafter without overt retinal disease [18].
• These findings support a functional role for EGF in Müller cell proliferation in retinal disease [19].
• Novel ESTs, putative proteins, and genomic hits may represent as yet unidentified RPE-expressed genes and many of these, mapping in the region of retinal disease loci, may serve as candidate genes [20].

Anatomical context of Retinal Diseases

• Subject groups included retinitis pigmentosa (RP; n = 33), macular disease (MD; n = 14), optic nerve disease (ON; n = 4), diabetic retinopathy (DR; n = 5), and other retinal diseases (OR; n = 9), and normally sighted control (CTL; n = 12) [21].
• PURPOSE: Hepatocyte growth factor/scatter factor (HGF/SF) possesses mitogenic, motogenic, and morphogenic properties and has recently been implicated in various retinal diseases [22].
• BACKGROUND AND OBJECTIVES: Selective treatment of the retinal pigment epithelium (RPE) by repetitively applying green micros-laser pulses is a new method for retinal diseases associated with a degradation of the RPE, which spares the neural retina [23].
• CONCLUSION: Hypoxia increases VEGF expression in retinal cells, which promotes retinal endothelial cell proliferation, suggesting that VEGF plays a major role in mediating intraocular neovascularization resulting from ischemic retinal diseases [24].
• Studies have shown an intimate relationship between cholesterol and retinal diseases; we examined the effects of cholesterol oxides on cultured cells [25].

Gene context of Retinal Diseases

• These data demonstrate VEGF's causal role in retinal angiogenesis and prove the potential of VEGF inhibition as a specific therapy for ischemic retinal disease [26].
• To facilitate ROM1 mutation and linkage analysis in inherited retinal diseases, we cloned and characterized the human and murine ROM1 genes [27].
• Central areolar choroidal dystrophy (CACD) is a rare inherited retinal disease which causes progressive profound loss of vision in patients during their 4th decade [28].
• Mutations within the CRB1 gene have been shown to cause human retinal diseases including retinitis pigmentosa and Leber congenital amaurosis [29].
• The Crb1rd8 mouse model will facilitate the analysis of Crb1 function in the neural retina and the identification of interacting factors as candidate retinal disease genes [29].

Analytical, diagnostic and therapeutic context of Retinal Diseases

• Immunoprecipitation of translation products with antibodies to the retinal S-antigen (a photoreceptor specific protein involved in autoimmune retinal disease) revealed this protein as a 50,000 daltons band comigrating with purified S-antigen [30].
• We observed foci of subretinal neovascularization, histopathologically markedly similar to that which occurs in several human retinal diseases, in the krypton laser treated eyes of 6 of the 14 rats that were followed for one to three months after photocoagulation [31].
• CONCLUSIONS: AG3340 administered systemically significantly inhibits oxygen-induced retinal neovascularization in an animal model and appears to be a promising candidate for the treatment of neovascular retinal diseases [32].
• The successful expression of the genes into RPE cells demonstrated that this technique can be used to regulate bFGF expression and thus increase the scope of RPE transplantation for the treatment of retinal diseases [33].
• LASIK for correction of myopia was followed by a low incidence of retinal disease; additional study is necessary to assess the true impact of the suction ring in the myopic eye [34].

References