By: Danielle Gauthier, Martin David Harp, Hattie Hayes
At ARVO 2025, in Salt Lake City, Utah, Danielle Gauthier talked about her poster on autosomal dominant Alzheimer disease in relation to optic nerve head drusen.
The below transcript has been lightly edited for clarity.
Danielle Gauthier:
Hello. My name is Danielle Gauthier, I’m a lab technician with Doheny Eye Institute. I’m also a research fellow with Dr Alfredo Sadun, who is affiliated with UCLA David Geffen School of Medicine. And I’m here today to talk about my poster, which is on autosomal dominant Alzheimer disease in relation to optic nerve head drusen. Our main thing was we wanted to look to see if optic nerve head drusen is associated with or may be caused by autosomal dominant Alzheimer disease. So I’ll be calling it ADAD. So we had a very rare case of homozygous ADAD, a postmortem tissue that we stained for three types of staining. GFAP, neurofilament protein, and Aβ. So the main thing is, we wanted to see whether or not the neurotoxicity associated with ADAD could cause optic nerve head drusen to form. So that was the main reason why we looked at and stained these three stains.