Abstract
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.
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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
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.
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
Landau K., Dossetor F.M., Hoyt W.F., Muci-Mendoza R., Retinal hamartoma in neurofibromatosis 2, Arch. Ophthalmol., 1990, 108, 328–329
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
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.
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
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
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
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
Ferrone P.J., Chaudhary K.M., Macular epiretinal membrane peeling treatment outcomes in young children, Retina., 2012, 32, 530–536
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
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Siwiec-Proscinska, J., Gotz-Wieckowska, A., Pawlak, M. et al. Epiretinal membrane and cataract in a 5-year-old boy with the suspicion of neurofibromatosis type 2. cent.eur.j.med 8, 80–83 (2013). https://doi.org/10.2478/s11536-012-0109-6
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DOI: https://doi.org/10.2478/s11536-012-0109-6