Retinal Degeneration

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  Subject Areas on Research

  • A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. 
  • A new and improved vitreoretinal erbium:YAG laser scalpel: long-term morphologic characteristics of retinal-choroidal injury. 
  • A pathologic study of degeneration of the rod and cone populations of the rhodopsin Pro347Leu transgenic pigs. 
  • A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. 
  • AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. 
  • Advancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano Symposium. 
  • Age-dependent retinal iron accumulation and degeneration in hepcidin knockout mice. 
  • Altered cAMP levels in retinas from transgenic mice expressing a rhodopsin mutant. 
  • Altered light responses of single rod photoreceptors in transgenic pigs expressing P347L or P347S rhodopsin. 
  • An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS. 
  • Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7. 
  • Apolipoprotein E allele-dependent pathogenesis: a model for age-related retinal degeneration. 
  • Apoptosis in human retinal degenerations. 
  • Apoptosis leads to photoreceptor degeneration in inherited retinal dystrophy of RCS rats. 
  • Apoptosis: final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice. 
  • Bayesian methods for highly correlated exposure data. 
  • Bmp6 regulates retinal iron homeostasis and has altered expression in age-related macular degeneration. 
  • C8ORF37 Is Required for Photoreceptor Outer Segment Disc Morphogenesis by Maintaining Outer Segment Membrane Protein Homeostasis. 
  • CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish. 
  • Calcineurin activation causes retinal ganglion cell degeneration. 
  • Cellular interactions implicated in the mechanism of photoreceptor degeneration in transgenic mice expressing a mutant rhodopsin gene. 
  • Characterization of Fatty Acid Binding Protein 7 (FABP7) in the Murine Retina. 
  • Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE. 
  • Disruption of ceruloplasmin and hephaestin in mice causes retinal iron overload and retinal degeneration with features of age-related macular degeneration. 
  • Distinct and atypical intrinsic and extrinsic cell death pathways between photoreceptor cell types upon specific ablation of Ranbp2 in cone photoreceptors. 
  • Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration. 
  • ERG responses and microarray analysis of gene expression in a multifactorial murine model of age-related retinal degeneration. 
  • Ectopic synaptogenesis during retinal degeneration in the royal college of surgeons rat. 
  • Electroretinographic alterations in the Laurence-Moon-Bardet-Biedl phenotype. 
  • Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration. 
  • Enhanced transduction and improved photoreceptor survival of retinal degeneration by the combinatorial use of rAAV2 with a lower dose of adenovirus. 
  • Evaluation of a commercial recombinant tissue-type plasminogen activator preparation in the subretinal space of the cat. 
  • Fibrin directs early retinal damage after experimental subretinal hemorrhage. 
  • Fine mapping of a putative rd cDNA and its co-segregation with rd expression. 
  • Genetic modifiers and oligogenic inheritance. 
  • Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa. 
  • Haploinsufficiency of RanBP2 is neuroprotective against light-elicited and age-dependent degeneration of photoreceptor neurons. 
  • Increased expression of ceruloplasmin in the retina following photic injury. 
  • Increased proteasomal activity supports photoreceptor survival in inherited retinal degeneration. 
  • Influence of early photoreceptor degeneration on lipofuscin in the retinal pigment epithelium. 
  • Iron homeostasis and toxicity in retinal degeneration. 
  • Isolation of a candidate cDNA for the gene causing retinal degeneration in the rd mouse. 
  • Lensectomy and vitrectomy decrease the rate of photoreceptor loss in rhodopsin P347L transgenic pigs. 
  • Loss of Arf4 causes severe degeneration of the exocrine pancreas but not cystic kidney disease or retinal degeneration. 
  • Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption. 
  • Microglial Function Is Distinct in Different Anatomical Locations during Retinal Homeostasis and Degeneration. 
  • Mitochondrial dysfunction in NnaD mutant flies and Purkinje cell degeneration mice reveals a role for Nna proteins in neuronal bioenergetics. 
  • Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes. 
  • Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome. 
  • Opsin, G-protein and 48-kDa protein in normal and rd mouse retinas: developmental expression of mRNAs and proteins and light/dark cycling of mRNAs. 
  • Optical coherence tomography (OCT) abnormalities in rhodopsin mutant transgenic swine with retinal degeneration. 
  • Optical cross-sectional imaging of the macula with the retinal thickness analyzer in X-linked retinoschisis. 
  • Pathologic changes in highly myopic eyes of young males in Singapore. 
  • Peripapillary chorioretinal atrophy: Bruch's membrane changes and photoreceptor loss. 
  • Phenotypic stability of Pro347Leu rhodopsin transgenic pigs as indicated by photoreceptor cell degeneration. 
  • Predisciform senile macular degeneration. 
  • Proteasome overload is a common stress factor in multiple forms of inherited retinal degeneration. 
  • Proteomic identification of unique photoreceptor disc components reveals the presence of PRCD, a protein linked to retinal degeneration. 
  • Rescue from light-induced retinal degeneration by human fetal retinal transplantation in minipigs. 
  • Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase. 
  • Retinal pigment epithelial degeneration, partial retinal atrophy and macular hole in acute lymphocytic leukemia. 
  • Retinitis pigmentosa: clinical management based on current concepts. 
  • Role for the target enzyme in deactivation of photoreceptor G protein in vivo. 
  • Senior-Loken syndrome (familial renal-retinal dystrophy) and Coats' disease. 
  • Studies leading to the isolation of a cDNA for the gene causing retinal degeneration in the rd mouse. 
  • Subretinal Human Umbilical Tissue-Derived Cell Transplantation Preserves Retinal Synaptic Connectivity and Attenuates Müller Glial Reactivity. 
  • Systemic administration of the iron chelator deferiprone protects against light-induced photoreceptor degeneration in the mouse retina. 
  • Targeted inactivation of synaptic HRG4 (UNC119) causes dysfunction in the distal photoreceptor and slow retinal degeneration, revealing a new function. 
  • The oral iron chelator deferiprone protects against iron overload-induced retinal degeneration. 
  • The oral iron chelator deferiprone protects against systemic iron overload-induced retinal degeneration in hepcidin knockout mice. 
  • Transplantation of full-thickness retina in the rhodopsin transgenic pig. 
  • Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide. 
  • Unusual chorioretinal degeneration associated with sarcoidosis. 
  • Urethan-induced retinopathy in pigmented rats. 
  • Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration? 
  • mRNAs coding for proteins of the cGMP cascade in the degenerative retina of the rd mouse. 
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  Keywords of People

  • Bowes Rickman, Catherine, Professor of Ophthalmology, Cell Biology
  • Cartoni, Romain, Assistant Professor of Pharmacology and Cancer Biology, Neurobiology
  • Ferreira, Paulo Alexandre, Associate Professor in Ophthalmology, Pathology
  • Stinnett, Sandra Sue, Associate Professor of Biostatistics and Bioinformatics, Biostatistics & Bioinformatics
  • Toth, Cynthia Ann, Joseph A.C. Wadsworth Professor of Ophthalmology, Ophthalmology, Vitreoretinal Diseases & Surgery