• fundus
  • Investigations -- Introduction to molecular genetics and genetic testing for retinal dystrophies- Electrophysiological testing -- Dark adaptation -- Fluorescein angiography -- ICG angiography -- Fundus autofluorescence in retinal dystrophies -- Spectral-domain optical coherence tomography in hereditary retinal dystrophies. (ugent.be)
  • FUNDUS PHOTOGRAPHY: Color and red-free photographs correspond to clinical findings and show peripheral pigmentary scarring in the temporal macula with some hemorrhage in the central macula on the right side and drusen on the left side with minimal subretinal hemorrhage left side. (retinagallery.com)
  • Mutations
  • His lab is currently working with CAROT center at UPenn to develop and standardize methods to differentiate patient-specific pluripotent stem cells (with and without pathogenic mutations) direct them towards development of retinal Organoids and retinal cell types (RPE, RPC and RGC) using in vitro differentiation assays. (upenn.edu)
  • 4 However, several other studies 5 , 6 reported extensive evidence of retinitis pigmentosa, foveoschisis, and optic disc drusen in families with MFRP mutations. (arvojournals.org)
  • biogenesis
  • My lab applies multi-disciplinary approaches to studying retinal pathology in AMD and POAG by understanding (1) pathways associated with these pathologies caused by SNPs in genes associated with cholesterol metabolism and lipid biogenesis in AMD and POAG (2) role of non-coding RNA, differentially expressing transcriptome and eQTLs in causing retinal pathobiology, and (3) investigating the role of novel SNPs/genes associated with POAG in African-American cohorts. (upenn.edu)
  • Patients
  • While therapies exist for some forms of late AMD, and nutritional supplements can slow the progression of early AMD for some patients, improved therapies to prevent vision loss from these disorders are needed. (masseyeandear.org)
  • Nonexudative (dry) age-related macular degeneration (AMD or ARMD) (see the image below) comprises more than 90% of patients diagnosed with AMD. (medscape.com)
  • Signs and symptoms of macular degeneration include: Visual symptoms Distorted vision in the form of metamorphopsia, in which a grid of straight lines appears wavy and parts of the grid may appear blank: Patients often first notice this when looking at things like miniblinds in their home or telephone poles while driving. (wikipedia.org)
  • Other complicating conditions may possibly lead to such an acute condition (severe stroke or trauma, untreated glaucoma, etc.), but few macular degeneration patients experience total visual loss. (wikipedia.org)
  • Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. (nih.gov)
  • A less-common condition referred to as 'wet' macular degeneration affects some ten percent of AMD patients. (edel-optics.com)
  • At first patients may assume it is their existing long or short-sightedness becoming worse but, sooner or later, the patient will begin to realise that the new symptoms are possibly something different. (edel-optics.com)
  • genetic
  • A deeper insight into molecular and genetic mechanisms of L-ORMD may suggest avenues to explore new treatments of this disorder and age related macular degeneration. (bmj.com)
  • Investigations -- Introduction to molecular genetics and genetic testing for retinal dystrophies- Electrophysiological testing -- Dark adaptation -- Fluorescein angiography -- ICG angiography -- Fu. (ugent.be)
  • macula
  • The left eye has drusen present in the central macula with some confluence and soft characteristics. (retinagallery.com)
  • The drusen cells are characterised by a yellow or white hue and, should a significant number of them be deposited upon the cones of the macula, the person's visual acuity will begin to be affected. (edel-optics.com)
  • progression
  • FHC as a high-risk feature for progression of AMD to late stages can be automatically assessed at different time points with similar sensitivity and specificity as compared to manual outlining. (arvojournals.org)
  • mutation
  • A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration. (upenn.edu)
  • We evaluated the pathogenicity of the G1961E mutation in the ABCA4 gene, and present the range of retinal phenotypes associated with this mutation in homozygosity in a patient cohort with ABCA4-associated phenotypes. (nih.gov)
  • microglia
  • Broderick C, Hoek RM, Forrester JV, Liversidge J, Sedgwick JD, Dick AD (2002) Constitutive retinal CD200 expression regulates resident microglia and activation state of inflammatory cells during experimental autoimmune uveoretinitis. (springer.com)
  • Eyes were collected for immunohistochemistry of RPE-choroid flat mounts and of retinal sections, ELISA, electron microscopy, and RPE/microglia gene expression analysis. (arvojournals.org)
  • angiography
  • Chang AA, Guyer DR, Orlock DR, Yannuzzi LA (2003) Age-dependent variations in the drusen fluorescence on indocyanine green angiography. (springer.com)
  • contrast
  • Trouble discerning colors, specifically dark ones from dark ones and light ones from light ones A loss in contrast sensitivity Macular degeneration by itself will not lead to total blindness. (wikipedia.org)
  • diseases
  • This lavishly illustrated atlas provides indispensable information to clinicians, geneticists and visual scientists working with inherited retinal diseases. (ugent.be)
  • intermediate
  • Early to intermediate nonexudative AMD: Significant for the presence of multiple drusen for early AMD. (medscape.com)
  • The early form of dry AMD is characterized by small to intermediate sized drusen, without significant vision loss. (medscape.com)
  • The severity is divided into early, intermediate, and late types. (wikipedia.org)
  • minimal
  • The left eye has a smooth and compact neurosensory retinal layer with some dropout of photoreceptors and minimal drusenoid RPE elevations. (retinagallery.com)
  • early
  • Hypertension (high blood pressure): In the ALIENOR study 2013, early and late AMD were not significantly associated with systolic or diastolic BP, hypertension, or use of antihypertensive medications, but elevated pulse pressure ((PP) systolic BP minus diastolic BP) was significantly associated with an increased risk of late AMD. (wikipedia.org)