Norrie disease


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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
References in periodicals archive ?
Trese, "Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy," Human Mutation, vol.
Gennarelli et al., "Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy," American Journal of Medical Genetics, vol.
Estivill, "Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families," Human Molecular Genetics, vol.
Collin et al., "Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP," Human Mutation, vol.
Hussel-Maumanee, "Mutation analysis of the Norrie disease gene in eleven families," Investigative Ophthalmology & Visual Science, vol.
Meitinger, "Missense mutations in the NDP gene in patients with a less severe course of Norrie disease," Human Molecular Genetics, vol.
Ferrell, "X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein," Clinical Genetics, vol.