Background and Aims: X-linked Alport syndrome is characterised by renal failure, hearing loss, lenticonus, and a central and peripheral dot-and-fleck retinopathy. Complement Factor H (CFH) gene variants are strongly associated with retinal drusen in macular degeneration and mesangiocapillary glomerulonephritis, and this study determined their role in the development of the Alport retinopathy.
Methods: Twenty-three males and 27 females from 27 unrelated families were examined and their DNA tested for the CFH risk allele (1277 T>C, h1, Y402H) and protective haplotypes (h2 and h4) using a MALDI-TOF-based method.
Results: The prevalence of the CFH risk allele was not increased in males with a central or peripheral retinopathy. Three of the 9 (33%) with the central retinopathy had at least one copy of the risk allele, and 5 of the 14 (36%) without the retinopathy did (NS, OR 0.900, CI 0.154 – 5.259). Four of the 12 (33%) with either retinopathy had the risk allele, and 2 of the 6 (33%) with none did, NS OR 1.0, CI 0.125 – 7.996).
Conclusion: The pathogenesis of the retinal dots and flecks in Alport syndrome is independent of CFH-dependent mechanisms and, like other clinical features, may depend on the nature of the underlying COL4A5 mutations.
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