Literature DB >> 1901496

Bilateral retinal hamartomas in neurofibromatosis type 2.

W V Good1, M C Erodsky, M S Edwards, W F Hoyt.   

Abstract

We report a case of bilateral retinal hamartomas in a child with neurofibromatosis type 2. This unique case demonstrates that a diversity of retinal changes can occur in this disease.

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Mesh：

Year:  1991        PMID： 1901496      PMCID： PMC1042307          DOI： 10.1136/bjo.75.3.190

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


  2 in total

1.  Retinal hamartoma in neurofibromatosis 2.

Authors:  K Landau; F M Dossetor; W F Hoyt; R Muci-Mendoza
Journal:  Arch Ophthalmol       Date:  1990-03

2.  Café-au-lait spots of the fundus in neurofibromatosis.

Authors:  E Cotlier
Journal:  Arch Ophthalmol       Date:  1977-11
  2 in total
  11 in total

Review 1.  Clinical and genetic patterns of neurofibromatosis 1 and 2.

Authors:  N K Ragge
Journal:  Br J Ophthalmol       Date:  1993-10       Impact factor: 4.638

2.  Retinal changes associated with neurofibromatosis 2.

Authors:  S M Meyers; F A Gutman; L D Kaye; A D Rothner
Journal:  Trans Am Ophthalmol Soc       Date:  1995

3.  Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.

Authors:  D M Parry; M M MacCollin; M I Kaiser-Kupfer; K Pulaski; H S Nicholson; M Bolesta; R Eldridge; J F Gusella
Journal:  Am J Hum Genet       Date:  1996-09       Impact factor: 11.025

4.  Ocular fundus in neurofibromatosis type 2.

Authors:  K Landau; G M Yaşargil
Journal:  Br J Ophthalmol       Date:  1993-10       Impact factor: 4.638

5.  Familial bilateral combined hamartoma of retina and retinal pigment epithelium associated with neurofibromatosis 1.

Authors:  Sanaa A Yassin; Elham R Al-Tamimi
Journal:  Saudi J Ophthalmol       Date:  2012-03-19

6.  Choroidoretinal granuloma in a young female patient.

Authors:  Horace F Massa; Zisis Gatzioufas; Georgios Mangioris; Georgios D Panos
Journal:  BMJ Case Rep       Date:  2014-04-17

7.  A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling.

Authors:  D G Evans; S M Huson; D Donnai; W Neary; V Blair; V Newton; T Strachan; R Harris
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

8.  Lens opacities in neurofibromatosis 2: further significant correlations.

Authors:  E A Bouzas; V Freidlin; D M Parry; R Eldridge; M I Kaiser-Kupfer
Journal:  Br J Ophthalmol       Date:  1993-06       Impact factor: 4.638

9.  Differential Expression of NF2 in Neuroepithelial Compartments Is Necessary for Mammalian Eye Development.

Authors:  Kyeong Hwan Moon; Hyoung-Tai Kim; Dahye Lee; Mahesh B Rao; Edward M Levine; Dae-Sik Lim; Jin Woo Kim
Journal:  Dev Cell       Date:  2017-12-14       Impact factor: 12.270

10.  Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2.

Authors:  Chi-Chao Chan; Christian A Koch; Muriel I Kaiser-Kupfer; Dilys M Parry; David H Gutmann; Zhengping Zhuang; Alexander O Vortmeyer
Journal:  J Pathol       Date:  2002-09       Impact factor: 7.996
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