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Journal

2013 | 8 | 1 | 80-83

Article title

Epiretinal membrane and cataract in a 5-year-old boy with the suspicion of neurofibromatosis type 2

Content

Title variants

Languages of publication

EN

Abstracts

EN
Different ocular findings have been described in association with neurofibromatosis 2 (NF2). Detailed ophthalmological examination of asymptomatic subjects with a family history of NF2 could help confirm the diagnosis in young patients. We present a case of unilateral cataract and bilateral epiretinal membranes in a 5-year-old boy with a family history of neurofibromatosis 2. The patient was referred to our department with diminished visual acuity bilaterally and an initial diagnosis of cataract in the right eye. Bestcorrected visual acuity was 3/19 in the right eye and 3/24 in the left eye (LH charts). On fundus examination, bilateral macular epiretinal membranes were found and confirmed by optical coherent tomography. In view of the ophthalmic signs mentioned above and the history of the patient’s father, who suffered from NF2 and died from meningioma and ependymoma, the patient was referred for genetic examination. Seventeen exons of the NF2 gene were tested with negative results. No pathology was found on clinical neurologic examination and magnetic resonance imaging of the brain. Although the patient has not met the criteria for NF2, he is now considered as an asymptomatic subject at risk and observed. Lens opacities with epiretinal membranes in children may be regarded as part of the clinical manifestation of NF2.

Publisher

Journal

Year

Volume

8

Issue

1

Pages

80-83

Physical description

Dates

published
1 - 2 - 2013
online
8 - 12 - 2012

Contributors

  • Department of Ophthalmology, Poznan University of Medical Sciences, 61-848, Poznan, Poland
  • Department of Ophthalmology, Poznan University of Medical Sciences, 61-848, Poznan, Poland
author
  • Department of Ophthalmology, Poznan University of Medical Sciences, 61-848, Poznan, Poland
  • Department of Ophthalmology, Poznan University of Medical Sciences, 61-848, Poznan, Poland

References

  • [1] Evans D.G., Huson S.M., Donnai D., Neary W., Blair V., Newton V., et al., A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counseling, J. Med. Genet., 1992, 29, 847–852 http://dx.doi.org/10.1136/jmg.29.12.847[Crossref]
  • [2] Evans D.G., Raymond F.L., Barwell J.G., Halliday D. Genetic testing and screening of individuals at risk of NF2. Clin. Genet., (in press), DOI: 10.1111/j.1399-0004.2011.01816.x. [Crossref]
  • [3] Pearson-Webb M.A., Kaiser-Kupfer M.I., Eldridge R., Eye findings in bilateral acoustic (central) neurofibromatosis: association with presenile lens opacities and cataracts but absence of Lisch nodules, N. Engl. J. Med., 1986, 315, 1553–1554
  • [4] Landau K., Dossetor F.M., Hoyt W.F., Muci-Mendoza R., Retinal hamartoma in neurofibromatosis 2, Arch. Ophthalmol., 1990, 108, 328–329 http://dx.doi.org/10.1001/archopht.1990.01070050026011[Crossref]
  • [5] Kaye L.D., Rothner A.D., Beauchamp G.R., Meyers S.M., Estes M.L., Ocular findings associated with neurofibromatosis type II, Ophthalmology., 1992, 99, 1424–1429
  • [6] Meyers S.M., Gutman F.A., Kaye L.D., Rothner A.D., Retinal changes associated with neurofibromatosis 2, Trans. Am. Ophthalmol. Soc., 1995, 93, 245–252.
  • [7] Bosch M.M., Boltshauser E., Harpes P., Landau K., Ophthalmologic findings and long-term course in patients with neurofibromatosis type 2, Am. J. Ophthalmol., 2006, 141,6, 1068–1077 http://dx.doi.org/10.1016/j.ajo.2005.12.042[Crossref]
  • [8] McLaughlin M.E., Pepin S.M., Maccollin M., Choopong P., Lessell S., Ocular pathologic findings of neurofibromatosis type 2, Arch. Ophthalmol., 2007, 125, 389–394 http://dx.doi.org/10.1001/archopht.125.3.389[Crossref]
  • [9] Schefler A.C., Dubovy S.R., Berrocal A.M., Optical coherence tomography characteristics of epiretinal membranes in neurofibromatosis 2, Ophthal. Surg. Las. Im., 2008, 39, 73–77 http://dx.doi.org/10.3928/15428877-20080101-13[Crossref]
  • [10] Sisk R.A., Berrocal A.M., Schefler A.C., Dubovy S.R., Bauer M.S., Epiretinal membranes indicate a severe phenotype of neurofibromatosis type 2, Retina., 2010, 30, S51–S58 http://dx.doi.org/10.1097/IAE.0b013e3181dc58bf[Crossref]
  • [11] Ferrone P.J., Chaudhary K.M., Macular epiretinal membrane peeling treatment outcomes in young children, Retina., 2012, 32, 530–536 http://dx.doi.org/10.1097/IAE.0B013E318233AD26[Crossref][WoS]
  • [12] Evans D.G., Baser M.E., O’Reilly B., Rowe J., Gleeson M., Saeed S., et al., Management of the patient and family with neurofibromatosis 2: a consensus conference statement, Br. J. Neurosurg., 2005, 19, 5–12 http://dx.doi.org/10.1080/02688690500081206[Crossref]

Document Type

Publication order reference

Identifiers

YADDA identifier

bwmeta1.element.-psjd-doi-10_2478_s11536-012-0109-6
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