Congenital Leber Amaurosis, Keratoconus, and Mental Retardation in Familial Juvenile Nephronophtisis

Abstract

Two siblings suffering from congenital Leber amaurosis were found to be affected also by juvenile nephronophtisis. Keratoconus in one child and mental retardation in the other developed during their later growth. An extensive laboratory study showed normal results but revealed an impaired urinary concentrating ability. The hereditary pattern operating in this complex disease was found to be consistent with an autosomal recessive trait.