Andersen-warburg syndrome

General: Sex-linked inheritance; gross deformation of both eyes; only males affected; onset at birth; putative gene for Norrie disease has been isolated and mapped to Xp11.3.

Ocular: Bilateral microphthalmos with extensive destruction of all ocular structures often resembling a pseudotumor; blindness at birth; iris atrophy; iritis; corneal opacification and lenticular destruction with a mass visible behind the lens as long as the lens is still clear; malformed retina and choroid with retinal pseudotumors; retinal detachment; retrolental vascular mass.

Clinical: Mental retardation ranging from imbecility to idiocy (may begin at any age) in about two thirds of cases; deafness of differing severity with onset between ages 9 and 45 years.

Andersen SR, Warburg M. Norrie's disease: congenital bilateral pseudotumor of retina with recessive X-chromosomal inheritance. Arch Ophthalmol 1961; 66:614-618.

Black G, Redomond RM. The molecular biology of Norrie's disease. Eye 1994; 8[Pt 5]:491-496,

Enyedi LB, et al. Ultrastructural study of Norrie's disease. Am J Ophthalmol l991; 111:439-445,

Liberfarb RM, et al. Norrie's disease: a study of two families. Ophthalmology 1985; 92:1445-l451.

Norrie G. Causes of blindness in children; twenty-five years' experience of Danish institutes for the blind. Acta Ophthalmol 1927; 5:357-386,

Warburg M. Norrie's disease: differential diagnosis and treatment. Acta Ophthalmol 1975; 53:217-236.

Wong F, et al. Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant. Arch Ophthalmol 1993; 111:1553-l557,