Cuticular Drusen

Abstract

The clinical entity of cuticular drusen was first described in 1985 by Gass [1]. The age at onset is usually early in the sixth decade but shows a broad variation. Up to 25 % of the patients have a positive family history for macular disease. Basal laminar drusen, also commonly referred to as cuticular drusen, may be caused by specific mutations in the CFH (complement factor H) gene, the same gene that has been found to be strongly associated with age-related macular degeneration [2]. This CFH gene encodes a protein that is important in the inhibition of excessive activation of the alternative complement cascade [3]. Like age-related macular degeneration, the basal laminar drusen phenotype is also strongly associated with the p.Tyr402His risk variant in the CFH gene [2, 4]. Some patients may only develop the early-onset basal laminar drusen phenotype when they carry at least one p.Tyr402His risk variant in addition to a CFH mutation [2]. Mutations in the fibulin-5 gene may also be implicated in basal laminar drusen [5].