- Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Biswas, S., Munier, F.L., Yardley, J., Hart-Holden, N., Perveen, R., Cousin, P., Sutphin, J.E., Noble, B., Batterbury, M., Kielty, C., Hackett, A., Bonshek, R., Ridgway, A., McLeod, D., Sheffield, V.C., Stone, E.M., Schorderet, D.F., Black, G.C. Hum. Mol. Genet. (2001)