Retinal disease in the C3 glomerulopathies and the risk of impaired vision
J Savige1,2, L Amos1, Frank Ierino3
1a University of Melbourne Department of Medicine , Melbourne Health and Northern Health, Royal Melbourne Hospital , Parkville , Victoria , Australia.
Insights
Complement Factor H (CFH) mutations cause dense deposit disease and atypical hemolytic uremic syndrome, leading to retinal drusen and vision loss. Early ophthalmological assessment is crucial for managing these vision-threatening complications.
Area of Science:
- Ophthalmology
- Nephrology
- Genetics
Background:
- Dense deposit disease and atypical hemolytic uremic syndrome are frequently linked to Complement Factor H (CFH) mutations.
- This study investigates retinal abnormalities in these conditions and explores the pathogenesis of drusen in relation to glomerular disease.
Purpose of the Study:
- To describe retinal abnormalities in dense deposit disease and atypical hemolytic uremic syndrome.
- To review drusen pathogenesis and its relevance to glomerular diseases.
Main Methods:
- Ophthalmological review, retinal photography, and optical coherence tomography were performed on individuals with dense deposit disease and atypical hemolytic uremic syndrome.
- Genetic testing identified Complement Factor H (CFH) mutations in affected individuals.
Main Results:
- Retinal drusen, impaired night vision, and various retinal abnormalities (atrophy, pigmentation, hemorrhage) were observed in dense deposit disease patients.
- Drusen were less prominent in a patient with atypical hemolytic uremic syndrome and a CFH mutation.
Conclusions:
- Drusen are common in C3 glomerulopathy associated with CFH mutations and can impair vision.
- Ophthalmological assessment and regular monitoring are recommended for patients with C3 glomerulopathy to detect vision-threatening complications.
Background:
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.
Methods:
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.
Results:
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.
Conclusions:
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.
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