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S. Seles, S. Kupferschmid, G. Kürzinger, G. E. Lang; Drusen in Patients With Systemic Lupus Erythematosus Associated With Complement Factor H Gene Polymorphism. Invest. Ophthalmol. Vis. Sci. 2007;48(13):3688.
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Drusen are deposits between the inner collagen layer and basal lamina of the retinal pigment epithelium (RPE) and can be the result of complex genetic disorders. Drusen are common in age-related macular degeneration, in choroidal nevi and in dominantly inherited drusen. Drusen are rare in autoimmune diseases.
Two patients with systemic lupus erythematosus (SLE) presented with complaints of unilateral visual deterioration. They had a complete ophthalmological and general work-up and were analysed for CFH gene polymorphism.
Patient 1 complained of glare and decreased visual acuity in her left eye. Visual acuity was 20/20 in her right eye and 16/20 in her left eye. Slit lamp biomicroscopy showed posterior subcapsular cataract in both eyes. Ophthalmoscopy and fluorescein angiography revealed macular and midperipheral drusen, atrophy and proliferation of the RPE and normal retinal vessels. Optical coherence tomography (OCT) showed hyperreflective areas correlating to the drusen. In the multifocal electroretinography (mfERG) the curves were normal. The patient had a history of glomerulonephritis. For SLE she was on steroid therapy for years. Patient 2 complained of visual loss in her left eye over the last three months. Best-corrected visual acuity was 20/20 in her right eye, 2/20 in her left eye. Slit lamp biomicroscopy showed clear lenses in both eyes. Ophthalmoscopy and fluorescein angiography showed macular and midperipheral drusen, atrophy and proliferation of the RPE. There where no signs of retinal vascular disorders. OCT showed thinning of the central retina in her left eye and hyperreflective drusen in both eyes. In the mfERG the amplitudes were decreased on both eyes. The patient had renal failure and was on renal dialysis for 6 months. Both patients had no retinal diseases in their family history. Because drusen and acute glomerular diseases can be associated with a polymorphism of the complement factor H gene, we analyzed the genomic DNA isolated from peripheral blood samples. Both patients were heterozygous for Y402H polymorphism.
Manifestation of drusen in SLE is extremely rare. In association with renal diseases they can occur in mesangiocapillary glomerulonephritis type II, where Y402H polymorphism heterozygosity can be found. Drusen in SLE could develop by immune complex deposits caused by complement factor H deficiency located on chromosome 1q31, the same locus with significant linkage to SLE. The results support the role of CFH gene polymorphism in the development of drusen.
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