Skip to main content
PMC home page
Transactions of the American Ophthalmological Society logoLink to Transactions of the American Ophthalmological Society
. 1995;93:245–257. doi: 10.1016/s0002-9394(14)70558-6

Retinal changes associated with neurofibromatosis 2.

S M Meyers 1, F A Gutman 1, L D Kaye 1, A D Rothner 1
PMCID: PMC1312060  PMID: 8719681

Abstract

INTRODUCTION: Neurofibromatosis (NF) is now known to be more than one disease. NF2, formerly classified as central neurofibromatosis, is characterized by bilateral vestibular schwannomas, previously termed "acoustic neuromas", and is much less common than NF1. Lens opacities at an early age have been described in approximately 85% of NF2 patients. PURPOSE: To determine the frequency of retinal abnormalities in NF2 patients. METHODS: We prospectively examined 15 consecutive patients who met the diagnostic criteria of NF2. RESULTS: We observed an epiretinal membrane in the macular or paramacular area in 12 of 15 patients, and a combined pigment epithelial and retinal hamartoma in the macula of one patient who also had an epiretinal membrane in the macula of the other eye. Additionally, 11 patients had central posterior cortical, subcapsular, or peripheral cortical lens opacities. CONCLUSIONS: Children or young patients with epiretinal membranes, combined pigment epithelial retinal hamartoma, and lens opacities that are not the result of other ocular disorders should have a neurologic evaluation and a careful family history for NF2.

Full text

PDF
245

Images in this article

248FIGURE 1
on p.248
248FIGURE 2
on p.248
249FIGURE 3
on p.249
249FIGURE 4
on p.249
254FIGURE 1
on p.254
255FIGURE 2
on p.255
255FIGURE 3
on p.255
255FIGURE 4
on p.255

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bouzas E. A., Parry D. M., Eldridge R., Kaiser-Kupfer M. I. Familial occurrence of combined pigment epithelial and retinal hamartomas associated with neurofibromatosis 2. Retina. 1992;12(2):103–107. doi: 10.1097/00006982-199212020-00005. [DOI] [PubMed] [Google Scholar]
  2. Bouzas E. A., Parry D. M., Eldridge R., Kaiser-Kupfer M. I. Visual impairment in patients with neurofibromatosis 2. Neurology. 1993 Mar;43(3 Pt 1):622–623. doi: 10.1212/wnl.43.3_part_1.622. [DOI] [PubMed] [Google Scholar]
  3. Charles S. J., Moore A. T., Yates J. R., Ferguson-Smith M. A. Lisch nodules in neurofibromatosis type 2. Case report. Arch Ophthalmol. 1989 Nov;107(11):1571–1572. doi: 10.1001/archopht.1989.01070020649012. [DOI] [PubMed] [Google Scholar]
  4. Cotlier E. Café-au-lait spots of the fundus in neurofibromatosis. Arch Ophthalmol. 1977 Nov;95(11):1990–1992. doi: 10.1001/archopht.1977.04450110084007. [DOI] [PubMed] [Google Scholar]
  5. Destro M., D'Amico D. J., Gragoudas E. S., Brockhurst R. J., Pinnolis M. K., Albert D. M., Topping T. M., Puliafito C. A. Retinal manifestations of neurofibromatosis. Diagnosis and management. Arch Ophthalmol. 1991 May;109(5):662–666. doi: 10.1001/archopht.1991.01080050076033. [DOI] [PubMed] [Google Scholar]
  6. Good W. V., Erodsky M. C., Edwards M. S., Hoyt W. F. Bilateral retinal hamartomas in neurofibromatosis type 2. Br J Ophthalmol. 1991 Mar;75(3):190–190. doi: 10.1136/bjo.75.3.190. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Johnston M. C., Noden D. M., Hazelton R. D., Coulombre J. L., Coulombre A. J. Origins of avian ocular and periocular tissues. Exp Eye Res. 1979 Jul;29(1):27–43. doi: 10.1016/0014-4835(79)90164-7. [DOI] [PubMed] [Google Scholar]
  8. Kaiser-Kupfer M. I., Freidlin V., Datiles M. B., Edwards P. A., Sherman J. L., Parry D., McCain L. M., Eldridge R. The association of posterior capsular lens opacities with bilateral acoustic neuromas in patients with neurofibromatosis type 2. Arch Ophthalmol. 1989 Apr;107(4):541–544. doi: 10.1001/archopht.1989.01070010555030. [DOI] [PubMed] [Google Scholar]
  9. Kampik A., Kenyon K. R., Michels R. G., Green W. R., de la Cruz Z. C. Epiretinal and vitreous membranes. Comparative study of 56 cases. Arch Ophthalmol. 1981 Aug;99(8):1445–1454. doi: 10.1001/archopht.1981.03930020319025. [DOI] [PubMed] [Google Scholar]
  10. Kaye L. D., Rothner A. D., Beauchamp G. R., Meyers S. M., Estes M. L. Ocular findings associated with neurofibromatosis type II. Ophthalmology. 1992 Sep;99(9):1424–1429. doi: 10.1016/s0161-6420(92)31789-0. [DOI] [PubMed] [Google Scholar]
  11. Laatikainen L., Punnonen E. 'Idiopathic' preretinal macular fibrosis in young individuals. Int Ophthalmol. 1987 Feb;10(1):11–14. doi: 10.1007/BF00202776. [DOI] [PubMed] [Google Scholar]
  12. Landau K., Dossetor F. M., Hoyt W. F., Muci-Mendoza R. Retinal hamartoma in neurofibromatosis 2. Arch Ophthalmol. 1990 Mar;108(3):328–329. doi: 10.1001/archopht.1990.01070050026011. [DOI] [PubMed] [Google Scholar]
  13. Landau K., Yaşargil G. M. Ocular fundus in neurofibromatosis type 2. Br J Ophthalmol. 1993 Oct;77(10):646–649. doi: 10.1136/bjo.77.10.646. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Lewis R. A., Riccardi V. M. Von Recklinghausen neurofibromatosis. Incidence of iris hamartomata. Ophthalmology. 1981 Apr;88(4):348–354. doi: 10.1016/s0161-6420(81)35034-9. [DOI] [PubMed] [Google Scholar]
  15. Martuza R. L., Eldridge R. Neurofibromatosis 2 (bilateral acoustic neurofibromatosis). N Engl J Med. 1988 Mar 17;318(11):684–688. doi: 10.1056/NEJM198803173181106. [DOI] [PubMed] [Google Scholar]
  16. Martuza R. L., Ojemann R. G. Bilateral acoustic neuromas: clinical aspects, pathogenesis, and treatment. Neurosurgery. 1982 Jan;10(1):1–12. [PubMed] [Google Scholar]
  17. Martyn L. J., Knox D. L. Glial hamartoma of the retina in generalized neurofibromatosis, Von Recklinghausen's disease. Br J Ophthalmol. 1972 Jun;56(6):487–491. doi: 10.1136/bjo.56.6.487. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Miyamoto R. T., Campbell R. L., Fritsch M., Lochmueller G. Preservation of hearing in neurofibromatosis 2. Otolaryngol Head Neck Surg. 1990 Oct;103(4):619–624. doi: 10.1177/019459989010300416. [DOI] [PubMed] [Google Scholar]
  19. Palmer M. L., Carney M. D., Combs J. L. Combined hamartomas of the retinal pigment epithelium and retina. Retina. 1990;10(1):33–36. [PubMed] [Google Scholar]
  20. Schachat A. P., Shields J. A., Fine S. L., Sanborn G. E., Weingeist T. A., Valenzuela R. E., Brucker A. J. Combined hamartomas of the retina and retinal pigment epithelium. Ophthalmology. 1984 Dec;91(12):1609–1615. doi: 10.1016/s0161-6420(84)34094-5. [DOI] [PubMed] [Google Scholar]
  21. Sivalingam A., Augsburger J., Perilongo G., Zimmerman R., Barabas G. Combined hamartoma of the retina and retinal pigment epithelium in a patient with neurofibromatosis type 2. J Pediatr Ophthalmol Strabismus. 1991 Nov-Dec;28(6):320–322. doi: 10.3928/0191-3913-19911101-08. [DOI] [PubMed] [Google Scholar]
  22. Turner D. L., Cepko C. L. A common progenitor for neurons and glia persists in rat retina late in development. Nature. 1987 Jul 9;328(6126):131–136. doi: 10.1038/328131a0. [DOI] [PubMed] [Google Scholar]
  23. Watanabe T., Raff M. C. Retinal astrocytes are immigrants from the optic nerve. Nature. 1988 Apr 28;332(6167):834–837. doi: 10.1038/332834a0. [DOI] [PubMed] [Google Scholar]
  24. Wise G. N. Congenital preretinal macular fibrosis. Am J Ophthalmol. 1975 Mar;79(3):363–365. doi: 10.1016/0002-9394(75)90607-8. [DOI] [PubMed] [Google Scholar]

Articles from Transactions of the American Ophthalmological Society are provided here courtesy of American Ophthalmological Society

RESOURCES