[Ophthalmologic differentiation of various forms of neurofibromatosis]

(Ophthalmologische Differenzierung von Neurofibromatoseformen.)

Full Abstract

Neurofibromatosis (NF) is one of the most frequent autosomal-dominant hereditary disorders. The molecular-genetic differentiation of NF 1 and NF 2 has important implications for the ophthalmologist. Among 80 patients with NF 1, Lisch nodules were diagnosed in 83% as typical criteria for the disease. In 6 patients who did not meet the NIH criteria for NF 1 and NF 2, the ophthalmological investigation showed no cataracts or Lisch nodules; thus, the ophthalmological examination can help to confirm a subtype of NF. In 8 out of 22 NF 2 patients a juvenile posterior subcapsular cataract was diagnosed. Our examination demonstrates that the diagnostic value of lens opacities in NF 2 patients--especially for early detection of the disease--must be clarified, especially with regard to the fact that there were no patients with incipient cataract and no neuroradiological criteria for the disease.

Author information

Author/s: Mautner, V F (VF); Hazim, W (W); Guthoff, R (R);

Affiliation: Neurologische Klinik, Allgemeines Krankenhaus Hamburg-Ochsenzoll.

Journal and publication information

Publication Type: English Abstract; Journal Article

Journal: Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft (Ophthalmologe), published in GERMANY. (Language: ger)

Reference: 1993-Aug; vol 90 (issue 4) : pp 391-3

Dates: Created 1993/10/21; Completed 1993/10/21; Revised 2006/11/15;

PMID: 8374240, status: MEDLINE (last retrieval date: 2/18/2009, IMS Date: )

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