Norrie disease

(redirected from Episkopi blindness)

Nor·rie dis·ease

(nōr'ē), [MIM*310600]
congenital bilateral masses of tissue arising from the retina or vitreous and resembling glioma (pseudoglioma), usually with atrophy of iris and development of cataract; associated mental retardation and deafness; X-linked recessive inheritance, caused by mutation in the Norrie disease gene (NDP) on Xp.

Nor·rie dis·ease

(nōr'ē di-zēz')
Congenital bilateral masses of tissue arising from the retina or vitreous and resembling gliomas (pseudogliomas), usually with atrophy of iris and development of cataract; associated mental retardation and deafness; X-linked recessive inheritance, caused by mutation in the Norrie disease gene (NDP) on Xp.

Norrie disease

(nor′ē)
[Gordon Norrie, Danish ophthalmologist, 1855–1941]
A rare form of x-linked blindness due to retinal malformation. Also present are peripheral vascular pathology, vitreous opacities, microphthalmia, and sometimes mental retardation and loss of hearing.

Norrie,

Gordon, Danish ophthalmologist, 1855-1941.
Norrie disease - congenital bilateral masses of tissue arising from the retina or vitreous and resembling glioma, usually with atrophy of iris and development of cataract, associated mental retardation and deafness. Synonym(s): Norrie syndrome; Norrie-Warburg syndrome
Norrie syndrome - Synonym(s): Norrie disease
Norrie-Warburg syndrome - Synonym(s): Norrie disease