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The ocular presentation of neurofibromatosis 2

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Abstract

Neurofibromatosis 2 (NF2) is an inherited disorder characterised primarily by bilateral vestibular schwannomas and other central nervous system tumours. Individuals with NF2 also have early onset cortical and posterior subcapsular or capsular cataract and other ocular abnormalities, such as retinal hamartomas. Although their diagnostic significance is rarely appreciated, the ocular manifestations are often the first sign of disease. We describe 5 cases that illustrate the diverse ocular manifestations of NF2

References

  1. 1

    Rouleau GA, Merel P, Lutchman M, et al. Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2. Nature 1993;363:515–21.

  2. 2

    Trofatter JA, MacCollin MM, Rutter JL, et al. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 1993;72:791–800.

  3. 3

    Sainz J, Huynh DP, Figueroa K, Ragge NK, Baser ME, Pulst SM . Mutations of the neuroflbromatosis type 2 gene and lack of the gene product in vestibular schwannomas. Hum Mol Genet 1994;3:885–91.

  4. 4

    Kaiser-Kupfer M, Friedlin V, Datiles M, et al. The association of posterior capsular lens opacities with bilateral acoustic neuromas in patients with neuroflbromatosis type 2. Arch Ophthalmol 1989;107:541–5.

  5. 5

    Kaye L, Rothner A, Beauchamp G, Meyers S, Estes M . Ocular findings associated with neurofibromatosis type 2. Ophthalmology 1992;99:1424–9.

  6. 6

    Bouzas EA, Freidlin V, Parry DM, Eldridge R, Kaiser-Kupfer MI . Lens opacities in neurofibromatosis 2: further significant correlations. Br J Ophthalmol 1993;77:354–7.

  7. 7

    Ragge NK, Baser ME, Klein J, et al. Ocular abnormalities in neurofibromatosis 2. Am J Ophthalmol 1995;120:634–41.

  8. 8

    Eldridge R, Parry D . Neurofibromatosis 2: evidence for clinical heterogeneity based on 54 affected individuals studied by MRI with gadolinium, 1987–1991. In: Conference Proceedings of the First International Conference on Acoustic Neuroma, Copenhagen, Denmark. Amsterdam/New York: Kugler Publications, 1991.

  9. 9

    Evans DRG, Huson SM, Donnai D, et al. A clinical study of type 2 neurofibromatosis. Q J Med 1992;84:603–18.

  10. 10

    Parry DM, Eldridge R, Kaiser-Kupfer MI, Bouzas EA, Pikus A, Patronas N . Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet 1994;52:450–61.

  11. 11

    Merel P, Hoang-Xuan K, Sanson M, et al. Screening for germ-line mutations in the NF2 gene. Genes Chrom Cancer 1995;12:117–27.

  12. 12

    Wertelecki W, Rouleau GA, Superneau DW, et al. Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred. N Engl J Med 1988;319:278–83.

  13. 13

    Bourn D, Carter SA, Mason S, Evans DGR, Strachan T . Germ-line mutations in the neurofibromatosis 2 gene in multiple tumor types. Hum Mol Genet 1994;3:813–6.

  14. 14

    Consensus Development Panel National Institutes of Health Consensus Development Conference Statement on Acoustic Neuroma, 11–13 December 1991. Arch Neurol 1994;51:201–7.

  15. 15

    Ragge NK . Clinical and genetic patterns of neurofibromatosis 1 and 2. Br J Ophthalmol 1993;77:662–72.

  16. 16

    Landau K, Dossetor FM, Hoyt, WF, Muci-Mendoza R . Retinal hamartoma in neurofibromatosis type 2. Arch Ophthalmol 1990;108:328–9.

  17. 17

    Good W, Brodsky M, Edwards M, Hoyt W . Bilateral retinal hamartomas in neurofibromatosis type 2. Br J Ophthalmol 1991;75:190.

  18. 18

    Bouzas EA, Parry DM, Eldridge R, Kaiser-Kupfer MI . Familial occurrence of combined pigment epithelial and retinal hamartomas associated with neurofibromatosis 2. Retina 1992;12:103–7.

  19. 19

    Dossetor FM, Landau K, Hoyt WF . Optic disk glioma in neurofibromatosis type 2. Am J Ophthalmol 1989;108:602–3.

  20. 20

    Landau K, Yasargil GM . Ocular fundus in neurofibromatosis type 2. Br J Ophthalmol 1993;77:646–9.

  21. 21

    Kalina PH, Bartley GB, Campbell RJ, Buettner H . Isolated neurofibromas of the conjunctiva. Am J Ophthalmol 1991;111:694–8.

  22. 22

    Perry H . Isolated neurofibromas of the conjunctiva. Am J Ophthalmol 1992;89:112–3.

  23. 23

    Frenkel M . Retinal angiomatosis in a patient with neurofibromatosis. Am J Ophthalmol 1967;63:804–8.

  24. 24

    Garretto NS, Ameriso S, Molina HA, et al. Type 2 neurofibromatosis with Lisch nodules. Neurofibromatosis 1989;2:315–21.

  25. 25

    Shapland CD, Greenfield JG . A case of neurofibromatosis with meningeal tumour involving the left optic nerve. Trans Ophthalmol Soc UK 1935;55:257–79.

  26. 26

    Cunliffe IA, Moffat DA, Hardy DG, Moore AT . Bilateral optic nerve sheath meningiomas in a patient with neurofibromatosis type 2. Br J Ophthalmol 1992;76:310–2.

  27. 27

    Pearson-Webb M, Kaiser-Kupfer M, 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;315:1553–4.

  28. 28

    Charles SJ, Moore AT, Yates JRW, Ferguson-Smith MA . Lisch nodules in neurofibromatosis type 2. Arch Ophthalmol 1989;107:1571–2.

  29. 29

    MacCollin M, Mohney T, Trofatter J, Wertelecki W, Ramesh V, Gusella J . DNA diagnosis of neurofibromatosis 2: altered coding sequence of the merlin tumor supressor in an extended pedigree. JAMA 1993;270:2316–20.

  30. 30

    Ruttledge MH, Narod SD, Dumanski JP, et al. Presymptomatic diagnosis for neurofibromatosis 2 with chromosome 22 markers. Neurology 1993;43:1753–60.

  31. 31

    Moore AT, Maher ER, Rosen P, Gregor Z, Bird AC . Ophthalmological screening for von Hippel-Lindau disease. Eye 1991;5:723–8.

  32. 32

    Olschwang S, Tiret A, Laurent-Pulg P, Muleris M, Parc R, Thomas G . Restriction of ocular fundus lesions to a specific group of APC mutations in adenomatous polyposis coli patients. Cell 1993;75:959–68.

  33. 33

    Danglot G, Regnier V, Fauvet D, Vassal G, Kujas M, Bernheim A . Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5 part of the gene. Hum Mol Genet 1995;4:915–20.

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Correspondence to Nicola K Ragge.

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https://doi.org/10.1038/eye.1997.3

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