Armstrong GW, Kim LA, Vingopoulos F, Park JY, Garg I, Kasetty M, Silverman RF, Zeng R, Douglas VP, Lopera F, Baena A, Giraldo M, Norton D, Cronin-Golomb A, Arboleda-Velasquez JF, Quiroz YT, Miller JB. Retinal Imaging Findings in Carriers With PSEN1-Associated Early-Onset Familial Alzheimer Disease Before Onset of Cognitive Symptoms. JAMA Ophthalmol. 2021 Jan 1;139(1):49-56. PubMed.

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Mutations

  1. PSEN1 E280A (Paisa)