Lowe syndrome (oculo-cerebro-renal syndrome)

General: Essential enzyme or protein abnormality is unknown; sex-linked recessive 515e47f trait (male incidence only); onset in early infancy.

Ocular: Nystagmus; congenital glaucoma; miotic pupils; no pupillary reaction; ectropion uveae; malformation of the anterior chamber angle and of the iris; Schlemm canal may be absent with imperfect angle cleavage; blue sclera; cloudy cornea; cataracts; megalocornea; corneal dystrophy; buphthalmos; microphthalmos; microphakia; mydriasis; strabismus; lens punctate cortical opacities.

Clinical: Mental, psychomotor, and growth retardation; aminoaciduria; albuminuria; glycosuria; renal tubular acidosis; rickets; osteomalacia; muscular hypotony; hyporeflexia; hyperactivity with bizarre choreoathetoid movements and screaming.

Bartsocas CS. Etiology of ocular manifestations in Lowe's syndrome. Ann Ophthalmol 1970; 2:368.

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

Fagerholm P, et al. Lowe's oculocerebrorenal syndrome-variation in lens changes in the carrier state. Acta Ophthalmol 1991; 69:102-l04.

Fisher NF. Oculocerebrorenal syndrome of Lowe. Arch Ophthalmol 1967; 77:642.

Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.