Related Experiment Videos
Spherophakia associated with molybdenum cofactor deficiency
R Parini1, V Briscioli, U Caruso
1Istituto di Pediatria, Ospedale Istituti Clinici di Perfezionamento, Milano, Italy.
American Journal of Medical Genetics
|January 24, 1998
Summary
Molybdenum cofactor deficiency, a genetic disorder, causes severe health issues and early death. This case highlights late-onset lens dislocation, suggesting abnormal zonular fiber relaxation as a potential cause.
Area of Science:
- Biochemistry
- Genetics
- Ophthalmology
Background:
- Molybdenum cofactor deficiency is an autosomal recessive disorder impacting multiple enzyme activities.
- Clinical features mimic isolated sulfite oxidase deficiency, including neurological and craniofacial abnormalities.
- Lens dislocation is a common manifestation in patients with this condition.