SPHEROPHAKIA ASSOCIATED WITH MOLYBDENUM COFACTOR DEFICIENCY

Molybdenum cofactor deficiency is an autosomal recessive disorder char acterized by lack of activity of the enzymes sulfite oxidase, aldehyde oxidase, and xanthine dehydrogenase or oxidase. The clinical manifest ations are indistinguishable from those of isolated sulfite oxidase de ficiency: craniofacial alterations, intractable neonatal convulsions, very severe mental retardation, lens dislocation, and death in the fir st decade of life. Lens dislocation is found in nearly all patients af ter neonatal age, In the present case it developed late (at the age of 8 years) and was preceded by bilateral spherophakia. We hypothesize t hat an abnormal relaxation, of the zonular fibers is the cause of sphe rophakia in this disease; this causes lens dislocation eventually, aft er days, months, or years. (C) 1997 Wiley-Liss, Inc.