Microspherophakia is the most prominent feature of this syndrome. High incidence of lens subluxation occurs inferiorly, often progressing to complete dislocation. Sulfite oxidase deficiency is an extremely rare disorder caused by a defect in sulfur metabolism. Salient features include progressive CNS abnormalities that develop within the first year of life in concert with ectopia lentis. Hyperlysinemia is an extremely rare autosomal recessive enzymatic defect of amino acid metabolism that is characterized by mental retardation and lens dislocation.
Diagnosis is made by demonstration of increased plasma levels of lysine.