Schizophrenia and mental retardation associated in a pedigree with retinitis pigmentosa and sensorineural deafness

A family is presented with multiple cases of mild mental retardation, schizophrenia and other functional psychoses, progressive hearing loss, and retinitis pigmentosa (RP). It closely resembles a previously reported Finnish family. We suggest that the phenotypes are not associated in this family by chance, but define a novel syndrome which may be caused by a mutant allele at a single genetic locus. © 1994 Wiley-Liss, Inc.