- AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. Parisi, M.A., Doherty, D., Eckert, M.L., Shaw, D.W., Ozyurek, H., Aysun, S., Giray, O., Al Swaid, A., Al Shahwan, S., Dohayan, N., Bakhsh, E., Indridason, O.S., Dobyns, W.B., Bennett, C.L., Chance, P.F., Glass, I.A. J. Med. Genet. (2006)