Literature DB >> 808085

Norrie's disease--differential diagnosis and treatment.

M Warburg.   

Abstract

A report on six children with Norrie's disease is presented. It is shown that the diagnosis can be established in sporadic cases if the early retrolental opacities are seen, and dementia or psychosis occurs after a normal infancy. Hearing loss is an important diagnostic sign. Children with Norrie's disease are more sensitive to disruption of family relationship than most other congenitally blind children.

Entities:  

Mesh：

Year:  1975        PMID： 808085     DOI： 10.1111/j.1755-3768.1975.tb01156.x

Source DB:  PubMed          Journal:  Acta Ophthalmol (Copenh)        ISSN： 0001-639X


  18 in total

1.  Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.

Authors:  J B Bateman
Journal:  Trans Am Ophthalmol Soc       Date:  1992

Review 2.  Animal models of ocular angiogenesis: from development to pathologies.

Authors:  Chi-Hsiu Liu; Zhongxiao Wang; Ye Sun; Jing Chen
Journal:  FASEB J       Date:  2017-07-24       Impact factor: 5.191

3.  A presumptive new variant of Norrie's disease.

Authors:  C A Moreira-Filho; I Neustein
Journal:  J Med Genet       Date:  1979-04       Impact factor: 6.318

4.  Manifesting heterozygosity in Norrie's disease?

Authors:  G Woodruff; R Newbury-Ecob; D S Plaha; I D Young
Journal:  Br J Ophthalmol       Date:  1993-12       Impact factor: 4.638

5.  A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family.

Authors:  Xin-Yu Zhang; Wei-Ying Jiang; Lu-Ming Chen; Su-Qin Chen
Journal:  Int J Ophthalmol       Date:  2013-12-18       Impact factor: 1.779

6.  Human monoamine oxidase A gene determines levels of enzyme activity.

Authors:  G S Hotamisligil; X O Breakefield
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

7.  Pathogenesis of persistent hyperplastic primary vitreous in mice lacking the arf tumor suppressor gene.

Authors:  Amy C Martin; J Derek Thornton; Jiewiu Liu; XiaoFei Wang; Jian Zuo; Monica M Jablonski; Edward Chaum; Frederique Zindy; Stephen X Skapek
Journal:  Invest Ophthalmol Vis Sci       Date:  2004-10       Impact factor: 4.799

8.  Retinal dysplasia.

Authors:  V Godel; P Nemet; M Lazar
Journal:  Doc Ophthalmol       Date:  1981-07-15       Impact factor: 2.379

9.  Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome.

Authors:  L M Bleeker-Wagemakers; U Friedrich; A Gal; T F Wienker; M Warburg; H H Ropers
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

10.  Probably Norrie's disease due to mutation. Two sporadic sibships of two males each, a necropsy of one case, and, given Norrie's disease, a calculation of the gene mutation frequency.

Authors:  C I Phillips; M Newton; J Duvall; S Holloway; A M Levy
Journal:  Br J Ophthalmol       Date:  1986-04       Impact factor: 4.638
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