Literature DB >> 1757856

Combined hamartoma of the retina and retinal pigment epithelium in a patient with neurofibromatosis type 2.

A Sivalingam1, J Augsburger, G Perilongo, R Zimmerman, G Barabas.   

Abstract

We describe a young patient with combined hamartoma of the retina and retinal pigment epithelium who developed bilateral acoustic neuromas and meningiomas of the cervical-medullary junction and fifth cranial nerve. This case illustrates the association between combined hamartoma of the retina and retinal pigment epithelium and neurofibromatosis type 2. The authors recommend that children with a combined hamartoma of the retina and retinal pigment epithelium be screened for neurofibromatosis type 2.

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Year:  1991        PMID： 1757856     DOI： 10.3928/0191-3913-19911101-08

Source DB:  PubMed          Journal:  J Pediatr Ophthalmol Strabismus        ISSN： 0191-3913            Impact factor:   1.402


  10 in total

1.  Combined hamartoma of the retina and retinal pigment epithelium.

Authors:  Kanmin Xue; Faye Mellington; Irina Gout; Sofia Rokerya; Oyinkan Ibironke Olurin; Ahmed El-Amir
Journal:  BMJ Case Rep       Date:  2012-11-15

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

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

3.  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

4.  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

5.  Ocular fundus in neurofibromatosis type 2.

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

6.  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

7.  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

8.  Neurofibromatosis 2 leads to choroidal hyperfluorescence in fluorescein angiography.

Authors:  Matthias Feucht; Gisbert Richard; Victor-Felix Mautner
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2006-12-21       Impact factor: 3.535

Review 9.  Hippo Signaling Circuit and Divergent Tissue Growth in Mammalian Eye.

Authors:  Kyeong Hwan Moon; Jin Woo Kim
Journal:  Mol Cells       Date:  2018-04-12       Impact factor: 5.034

10.  Combined hamartoma of the retina and retinal pigment epithelium - MRI features of a rare paediatric intraocular tumour.

Authors:  Stephan Waelti; Tim Fischer; Veit Sturm; Jan Heckmann
Journal:  BJR Case Rep       Date:  2020-11-17
  10 in total

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