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Literature DB >> 3342220

Norrie's disease in an Asian family.

Abstract

Norrie's disease, a congenital progressive oculo-acoustico-cerebral degenerative condition, is a sex linked recessive disorder. Previously described as atrophia oculi congeneti, it is associated with bilateral pseudotumour of the retina, lens, and corneal opacities, and phthisis bulbi. Some patients develop progressive deterioration of mental function and hearing. We report a Sri Lankan family with typical features of Norrie's disease.

Entities: Disease Species

Mesh：

Year: 1988 PMID： 3342220 PMCID： PMC1041368 DOI： 10.1136/bjo.72.1.62

Source DB: PubMed Journal: Br J Ophthalmol ISSN： 0007-1161 Impact factor: 4.638

6 in total

1. Norrie's disease: congenital bilateral pseudotumor of the retina with recessive X-chromosomal inheritance; preliminary report.

Authors: S R ANDERSEN; M WARBURG
Journal: Arch Ophthalmol Date: 1961-11

2. Episkopi blindness; hereditary blindness in a Greek Cypriot family.

Authors: P J TAYLOR; T COATES; M L NEWHOUSE
Journal: Br J Ophthalmol Date: 1959-06 Impact factor: 4.638

3. Congenital blindness (pseudoglioma) occurring as a sex-linked developmental anomaly.

Authors: W M G WILSON
Journal: Can Med Assoc J Date: 1949-06 Impact factor: 8.262

4. Norrie's disease.

Authors: A C Hansen
Journal: Am J Ophthalmol Date: 1968-08 Impact factor: 5.258

5. Norrie's disease--an x-linked syndrome of retinal malformation, mental retardation and deafness.

Authors: L B Holmes
Journal: N Engl J Med Date: 1971-02-18 Impact factor: 91.245

6. Norrie's disease. A congenital progressive oculo-acoustico-cerebral degeneration.

Authors: M Warburg
Journal: Acta Ophthalmol (Copenh) Date: 1966

6 in total

3 in total