This was a 30-year-old male who was referred for evaluation of macular degeneration. The patient underwent renal transplantation due to glomerulonephritis five years ago. The BCVAs were 0.1 for the right eye and count finger at 2 meters for the left one. IOPs and anterior segments were normal.
Fundus examination of right and left eyes revealed wide-spread drusen-like deposits extending from macula to the far periphery in both eyes in addition to foveal atrophy in the right macula and macular scar with extrafoveal hemorrhage in the left macula.
Fundus autofluorescence imaging (BAF and wide-angle FAF) showed the hyperautoflurescence of drusen-like deposits with hypoautofluorescence of central macula in both eyes.
Spectral-domain optical coherence tomography of the left eye demonstrated the subretinal hyperreflective material with intraretinal fluid.
After excluding PRPH2 pattern dystrophy and ABCA4 retinopathy with genetic testing; the patient was diagnosed as diffuse drusen-like deposits associated with dense deposit disease, also known as C3 glomerulopathy or membranoproliferative glomerulonephritis type-II.
Dense deposit disease is a rare condition that causes drusenoid deposits within Bruch’s membrane and the glomerular basement membrane and leads to end stage renal failure in 50% of patients. The mutation of the complement factor H gene is thought to be the underlying cause of the retinal and glomerular basement membrane deposits. Both the RPE and the renal podocytes produce factor H, and therefore mutations in the gene cause deregulation of complement activation at the glomerular basement membrane and the Bruch’s membrane. Retinal drusen are present on examination in almost all cases with dense deposit disease. The condition occasionally impairs visual acuity and the field of vision, predominantly by the development of subretinal neovascular membranes, macular detachment and central serous retinopathy.
Credit: Kemal Tekin, M.D., from Ulucanlar Eye Training and Research Hospital
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