A long history of dense deposit disease

Abstract

BackgroundDense Deposit Disease is a rare condition affecting the Bruch’s membrane and the glomerular basement membrane. We report the progression of the ocular manifestations over a 30 year follow up period, longer than any previous report.Case presentationA 44 year old male presented with pigmentary changes at the macula noted by his optician. Best corrected visual acuity at presentation was good in both eyes. Fundoscopy showed pigmentary changes and drusen, and investigation using intravenous fundus fluorescein angiography did not demonstrate any choroidal neovascular membrane. The patient subsequently developed renal failure and received a dual renal transplant. The transplanted kidneys also failed over the coming year. The patient’s vision gradually deteriorated and comparison between the images in 2010 and 1985 demonstrated a clear progression of the macula changes. Optical coherence tomography showed multiple subretinal hyper reflective drusenoid deposits. These deposits were also noted to be autofluorescent on blue auto-fluorescence. The young age at presentation of drusen, combined with the history of recurrent kidney failure and progression of subretinal deposits led to a diagnosis of dense deposit disease.ConclusionsDense deposit disease is a rare condition affecting Bruch’s membrane, but should be considered in the differential diagnosis of any patient under the age of 50 years presenting with drusen.

Measuring the Contributions of Basal Laminar Deposit and Bruch's Membrane in Age-Related Macular Degeneration

“…13,14,63,64 Alterations to these proteins result in early onset maculopathies with thick BLamD, drusen, BrM pathology, and atrophic and NV complications. These include Sorsby fundus dystrophy (TIMP3), 14,65 late-onset retinal degeneration (C1QTNF5) , 66,67 Malattia Leventinese/ Doyne's honeycomb retinal dystrophy (EFEMP1), 50,68,69 dense deposit disease / membranoproliferative glomerulonephritis type II (C3 / CFH), 70,71 and possibly Martinique crinkled retinal pigment epitheliopathy (MAPKAP3). [72][73][74] These genes are distinct from those impacting the three-layer BrM (pseudoxanthoma elasticum, ABCC6).…”

On the origin of proteins in human drusen: The meet, greet and stick hypothesis

“…AD is the biggest cause of dementia, affecting millions of people in the western world. DDD is a relatively rare juvenile disease characterized by kidney malfunction (Ito et al, 2017;Wang et al, 2017;Cunningham and Kotagiri, 2018). Despite the potential relevance for diseases, little is known about the composition of drusen and how and why biomaterials accumulate these deposits.…”