A long history of dense deposit disease

Abstract

Background: Dense 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 presentation: A 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.

Conclusions: Dense 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.

Keywords: Dense deposit disease; Kidney failure; MPGN; Mesangiocapillary glomerulonephritis; Retinal drusen.

Fig. 1

IVFA at presentation (1985) demonstrating bilateral drusen seen as a blocking defect (yellow arrows) which is worse in the right eye

Fig. 2

Bilateral fundus colour photographs demonstrating cotton wool spots (white arrows), venous beading (yellow arrows) and haemorrhaging (red arrows), consistent with hypertensive retinopathy

Fig. 3

Comparison of the IVFA of the right eye at presentation in 1985 and at re-referral in 2010

Fig. 4

OCT of the Right eye demonstrating no response to intravitreal anti-VEGF therapy. (Yellow arrows mark sub-foveal space, Blue arrows mark drusen, Red arrow marks RPE)

Fig. 5

OCT cut through drusen showing preservation of the RPE and photoreceptors, with thickening of Bruch’s membrane

Fig. 6

Bilateral Blue Auto-fluorescence (BAF) photographs demonstrating increased and decreased autofluorescence at the maculae (outlined by dotted white ellipses)

Fig. 7

Bilateral wide angle infra-red fundus photographs demonstrating the limitation of the retinal changes to the posterior pole

Fig. 8

Comparison between the BAF appearance in 2010 and 2016 demonstrating an increasing number of sub-retinal deposits