LEBER CONGENITAL AMAUROSIS ASSOCIATED WITH FAMILIAL JUVENILE NEPHRONOPHTHISIS AND CONE-SHAPED EPIPHYSES OF THE HANDS (THE SALDINO-MAINZER SYNDROME)

Three affected children (a 13 yr old girl and her 7 and 8 yr old brothers) in a sibship of 8 had findings consistent with the Saldino-Mainzer syndrome (skeletal dysplasia associated with Leber''s congenital amaurosis, familial juvenile nephronophthisis, and cone-shaped epiphyses of the hands). Two also had pigmented midline nevi. Although tapetoretinal degeneration and familial juvenile nephronophthisis are associated in the inherited Senior-Loken syndrome, the rare association of these abnormalities with cone-shaped epiphyses of the hands suggested an autosomal recessive syndrome with variable expression remarkably similar to the Saldino-Mainzer syndrome, which may or may not be distinct from the Senior-Loken syndrome. The association of tapetoretinal degeneration with skeletal dysplasia may indicate asymptomatic renal or hepatic disease.