• phenotype
  • Expression of a Cfh transgene introducing a variant in SCRs 6 to 8 was sufficient to lead to increased retinal/RPE susceptibility to oxidative stress, a proinflammatory MG/MΦ phenotype, and a proinflammatory RPE/MG/MΦ gene expression profile in a transgenic mouse model. (arvojournals.org)
  • Basal laminar drusen refers to an early adult-onset drusen phenotype that shows a pattern of uniform small, slightly raised yellow subretinal nodules randomly scattered in the macula. (mybiosource.com)
  • The goal of these studies was to characterize the retinal phenotype, to identify the causative locus, and to examine possible functions of the affected gene. (arvojournals.org)
  • macula
  • 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)
  • Characteristically small round white spots (drusen) involving the posterior pole of the eye, including the areas of the macula and optic disc, appear in early adult life. (blindness.org)
  • Three of the 10 patients they described were sisters affected with whitish spots (drusen) in the macula. (blindness.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)
  • retinitis pigmentosa
  • 7 Although pigmentary changes are nonspecific and may occur in many different retinal conditions (such as retinitis pigmentosa or macular telangiectasia type 2) 8 - 10 , the prognostic value of focal hyperpigmentary changes (FHC) associated with medium or large drusen has been recently underscored by the Beckman Initiative for Macular research. (arvojournals.org)
  • Patients
  • Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. (nih.gov)
  • All patients had evidence of retinal pathology consistent with the range of phenotypes observed in ABCA4 disease. (nih.gov)
  • 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)
  • Vogt (1925) published the first description of the ophthalmoscopic appearance of a form of familial drusen that had been observed in patients living in the Leventine valley in the Ticino canton of southern Switzerland. (blindness.org)
  • 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
  • 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)
  • 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)
  • irreversible
  • Eight years later, subfoveal neovascularization led to an irreversible decrease in visual acuity in her right eye, down to 20/1,000. (blindness.org)
  • form
  • The late type is additionally divided into "dry" and "wet" forms with the dry form making up 90% of cases. (wikipedia.org)