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Title: Retinal disease in the C3 glomerulopathies and the risk of impaired vision.
Austin Authors: Savige, J;Amos, L;Ierino, Francesco L;Mack, H G;Symons, R C Andrew;Hughes, P;Nicholls, K;Colville, D
Affiliation: Department of Nephrology, Royal Melbourne Hospital, Parkville, Victoria, Australia
Department of Nephrology, Austin Health, Heidelberg, Victoria, Australia
University of Melbourne Department of Ophthalmology, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia
University of Melbourne Department of Medicine, Melbourne Health and Northern Health, Royal Melbourne Hospital, Parkville, Victoria, Australia
Department of Ophthalmology, Royal Melbourne Hospital, Parkville Victoria, Australia
University of Melbourne Department of Surgery, Royal Melbourne Hospital, Parkville Victoria, Australia
Issue Date: Dec-2016
Date: 2016-02-25
Publication information: Ophthalmic genetics 2016; 37(4): 369-376
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.
DOI: 10.3109/13816810.2015.1101777
Journal: Ophthalmic genetics
PubMed URL: 26915021
Type: Journal Article
Subjects: C3 glomerulopathy
complement alternative pathway
complement factor H
dense deposit disease
membranoproliferative glomerulonephritis type II
Appears in Collections:Journal articles

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