Differentiating drusen: Drusen and drusen-like appearances associated with ageing, age-related macular degeneration, inherited eye disease and other pathological processes
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文摘

Besides age-related macular degeneration, drusen and drusen-like deposits can occur in normal ageing, and in young age groups; they can also be associated with inherited conditions and with systemic disorders.

Multimodal imaging can afford a degree of differentiation.

White dots, drusen or subretinal drusenoid deposits may be seen in a number of inherited eye disorders, including visual cycle disorders as well as mutations in the following genes: EFEMP1, PLA2G5, TIMP3, C1QTNF5, IMPG1, IMPG2, PRPH2, CDHR1.

Common themes emerging include complement dysregulation and alterations in the transport of retinoid (either by visual cycle disruption or Bruch membrane thickening), yielding insight into pathogenetic mechanisms as well as potential therapeutic targets.

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