释义 |
Norrie disease
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 syndromeNorrie syndrome - Synonym(s): Norrie diseaseNorrie-Warburg syndrome - Synonym(s): Norrie diseaseSee NDP See ND |