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Related Experiment Videos

Retinal changes associated with neurofibromatosis 2

S M Meyers1, F A Gutman, L D Kaye

  • 1Department of Ophthalmology, Cleveland Clinic Foundation, Cleveland, OH, USA.

Transactions of the American Ophthalmological Society
|January 1, 1995
PubMed
Summary

Neurofibromatosis type 2 (NF2) frequently causes epiretinal membranes and lens opacities. Early detection of these ocular findings in young patients may indicate NF2.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Neurology

Background:

  • Neurofibromatosis type 2 (NF2) is a genetic disorder distinct from NF1.
  • NF2 is characterized by bilateral vestibular schwannomas and is less common than NF1.
  • Early-onset lens opacities are reported in approximately 85% of NF2 patients.

Purpose of the Study:

  • To investigate the prevalence of retinal abnormalities in individuals diagnosed with NF2.

Main Methods:

  • Prospective examination of 15 consecutive patients meeting NF2 diagnostic criteria.

Main Results:

  • Epiretinal membrane observed in 12 of 15 patients (macular or paramacular).
  • Combined pigment epithelial and retinal hamartoma noted in one patient with bilateral epiretinal membranes.

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  • Lens opacities (cortical or subcapsular) present in 11 patients.

    • Conclusions:

    • Epiretinal membranes, combined pigment epithelial retinal hamartoma, and lens opacities in young patients warrant neurologic evaluation for NF2.
    • A thorough family history is crucial when these ocular findings are present and not attributable to other causes.