title: Retinal disease in the C3 glomerulopathies and the risk of impaired vision.
abstract: Dense deposit disease and atypical hemolytic uremic syndrome are often caused by Complement Factor H (CFH) mutations. This study describes the retinal abnormalities in dense deposit disease and, for the first time, atypical haemolytic uremic syndrome. It also reviews our understanding of drusen pathogenesis and their relevance for glomerular disease.
  
  
  
  Six individuals with dense deposit disease and one with atypical haemolytic uremic syndrome were studied from 2 to 40 years after presentation. Five had renal transplants. All four who had genetic testing had CFH mutations. Individuals underwent ophthalmological review and retinal photography, and in some cases, optical coherence tomography, and further tests of retinal function.
  
  
  
  All subjects with dense deposit disease had impaired night vision and retinal drusen or whitish-yellow deposits. Retinal atrophy, pigmentation, and hemorrhage were common. In late disease, peripheral vision was restricted, central vision was distorted, and there were scotoma from sub-retinal choroidal neovascular membranes and atypical serous retinopathy. Drusen were present but less prominent in the young person with atypical uremic syndrome due to a heterozygous CFH mutation.
  
  
  
  Drusen are common in forms of C3 glomerulopathy caused by compound heterozygous or heterozygous CFH mutations. They are useful diagnostically but also impair vision. Drusen have an identical composition to glomerular deposits. They are also identical to the drusen of age-related macular degeneration, and may respond to the same treatments. Individuals with a C3 glomerulopathy should be assessed ophthalmologically at diagnosis, and monitored regularly for vision-threatening complications.
authors.affiliation: a University of Melbourne Department of Medicine , Melbourne Health and Northern Health, Royal Melbourne Hospital , Parkville , Victoria , Australia.|b Department of Nephrology , Royal Melbourne Hospital , Parkville , Victoria , Australia.
authors.forename: J
authors.initials: J
authors.lastname: Savige
authors.affiliation: a University of Melbourne Department of Medicine , Melbourne Health and Northern Health, Royal Melbourne Hospital , Parkville , Victoria , Australia.
authors.forename: L
authors.initials: L
authors.lastname: Amos
authors.affiliation: c Department of Nephrology , Austin Health , Heidelberg , Victoria , Australia.
authors.forename: Frank
authors.initials: F
authors.lastname: Ierino
authors.affiliation: d University of Melbourne Department of Ophthalmology , Royal Victorian Eye and Ear Hospital , East Melbourne , Victoria , Australia.
authors.forename: H G
authors.initials: HG
authors.lastname: Mack
authors.affiliation: e Department of Ophthalmology , Royal Melbourne Hospital , Parkville Victoria , Australia.|f University of Melbourne Department of Surgery , Royal Melbourne Hospital , Parkville Victoria , Australia.
authors.forename: R C Andrew
authors.initials: RC
authors.lastname: Symons
authors.affiliation: b Department of Nephrology , Royal Melbourne Hospital , Parkville , Victoria , Australia.
authors.forename: P
authors.initials: P
authors.lastname: Hughes
authors.affiliation: b Department of Nephrology , Royal Melbourne Hospital , Parkville , Victoria , Australia.
authors.forename: K
authors.initials: K
authors.lastname: Nicholls
authors.affiliation: a University of Melbourne Department of Medicine , Melbourne Health and Northern Health, Royal Melbourne Hospital , Parkville , Victoria , Australia.
authors.forename: D
authors.initials: D
authors.lastname: Colville
mesh_terms: D000328:Adult; D000369:Aged, 80 and over; D065766:Atypical Hemolytic Uremic Syndrome / Q000175:diagnosis / Q000235:genetics; D003176:Complement C3 / Q000276:immunology*; D017242:Complement Factor H / Q000235:genetics; D003170:Complement Pathway, Alternative / Q000235:genetics; D004585:Electrooculography; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D015432:Glomerulonephritis, Membranoproliferative / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D006801:Humans; D008297:Male; D008875:Middle Aged; D015593:Retinal Drusen / Q000175:diagnosis* / Q000235:genetics; D012307:Risk Factors; D041623:Tomography, Optical Coherence; D014786:Vision Disorders / Q000175:diagnosis* / Q000235:genetics
chemical_list: C493495:CFH protein, human; D003176:Complement C3; D017242:Complement Factor H
keywords: C3 glomerulopathy; complement alternative pathway; complement factor H; dense deposit disease; drusen; membranoproliferative glomerulonephritis type II