Our objective is to determine whether this mutation is involved in AMD by (1) understanding the functional consequences of this genomic variation on expression of COL8A1 and / or its neighbor genes, and (2) investigating
photoreceptors and RPE
cell survival, retinal and choroidal angiogenesis, structure
integrity of the choroid / Bruch's membrane, and the quality of the vision, in organisms with the COL8A1 mutation.