Hypolipidemia syndrome (hooft syndrome)

General: Autosomal recessive inheritance; disorder of t 656f53g ryptophan metabolism; normal glycolysis disturbed, which in turn interferes with normal fat synthesis; low levels of serum phospholipids, present from birth.

Ocular: Tapetoretinal degeneration of posterior pole with irregular, small areas of grayish-yellow discoloration scattered over posterior aspect of the retina; increased shiny reflection from the macular region, with 'wet' and shiny appearance.

Clinical: Mental retardation; disturbance in normal growth; anomalies of hair, nails, and teeth; erythematous squamous skin rash (mainly face, arms, and legs).

Collins JF. Handbook of Clinical Ophthalmology. New York: Masson, 1982.

Francois J. Ocular manifestations in certain congenital errors of metabolism. In: Symposium on surgical and medical management of congenital anomalies of the eye. St. Louis: CV Mosby, 1968:171.

Hooft C, et al. Familial hypolipidaemia and retarded development without steatorrhea: another inborn error of metabolism? Helv Pediatr Acta 1962; 17:1.