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Spherophakia associated with molybdenum cofactor deficiency

✍ Scribed by Parini, Rossella; Briscioli, Vincenza; Caruso, Ubaldo; Dorche, Claude; Fortuna, Renato; Minniti, Giuseppe; Selicorni, Angelo; Vismara, Elisabetta; Mancini, Grazia

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 12 KB
Volume: 73
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971219)73:3<272::aid-ajmg8>3.0.co;2-u

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✦ Synopsis

Molybdenum cofactor deficiency is an autosomal recessive disorder characterized by lack of activity of the enzymes sulfite oxidase, aldehyde oxidase, and xanthine dehydrogenase or oxidase. The clinical manifestations are indistinguishable from those of isolated sulfite oxidase deficiency: craniofacial alterations, intractable neonatal convulsions, very severe mental retardation, lens dislocation, and death in the first decade of life. Lens dislocation is found in nearly all patients after neonatal age. In the present case it developed late (at the age of 8 years) and was preceded by bilateral spherophakia. We hypothesize that an abnormal relaxation of the zonular fibers is the cause of spherophakia in this disease; this causes lens dislocation eventually, after days, months, or years. Am.

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