- A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Otto, E., Hoefele, J., Ruf, R., Mueller, A.M., Hiller, K.S., Wolf, M.T., Schuermann, M.J., Becker, A., Birkenhäger, R., Sudbrak, R., Hennies, H.C., Nürnberg, P., Hildebrandt, F. Am. J. Hum. Genet. (2002)