Ocular fundus in neurofibromatosis type 2 Klara Landau ,


Several ocular findings have been associated with neurofibromatosis type 2 (NF 2) since the identification of this disease as a distinct clinical entity. Juvenile cataracts were reported first, followed by combined pigment epithelial and retinal hamartomas. In a recent report, epiretinal membranes were described in seven of nine patients. Moreover, an association between NF 2 and optic disc gliomas has been suggested based on earlier published reports. Six patients with a confirmed diagnosis ofNF 2 were examined. Four patients (six of 12 eyes) had epiretinal membranes and one had an optic disc glionna. In addition, one case of an optic disc glioma in a patient with NF 2 was tracked. It is concluded that epiretinal membranes are frequent inNF 2, and that optic disc glioma is a rare but specific sign of NF 2. Patients at risk for development ofthis disease should undergo careful examination ofthe ocular fundus. (BrJ Ophthalmol 1993; 77: 646-649) University Hospital of Zurich, Switzerland Department of Ophthalmology K Landau Department of Neurosurgery GM Yaargil Correspondence to: Klara Landau, MD, Augenklinik, Universitiitsspital Zurich, Frauenklinikstrasse 24, 8091 Zurich, Switzerland. Accepted for publication 28 April 1993 New data concerning the gene defects in neurofibromatosis have led to recognition of two separate entities: neurofibromatosis type 1 (NF 1) and neurofibromatosis type 2 (NF 2). These distinct forms ofneurofibromatosis are caused by gene defects on different chromosomes. In NF 1 the gene defect is located in the pericentromeric region of chromosome 17; in NF 2 the gene defect is located on the long arm of chromosome 22.'2 The cardinal finding in NF 2 is bilateral acoustic neuromas. Their identification, even in the absence of other findings, clinches the diagnosis of NF 2.3 Other central nervous system tumours associated with NF 2 include meningiomas, gliomas, and schwannomas. Cafe au lait spots and skin neurofibromas may develop but iris hamartomas are associated almost exclusively with NF 1. In 1986 and 1989 Kaiser-Kupfer and her colleagues described juvenile posterior capsular lens opacities in patients with NF 2.4 This observation provided the first report ofan ocular abnormality in NF 2. An association was later proposed between combined pigment epithelial and retinal hamartomas (CPERH) and NF 2.6 This finding was confirmed by several authors.7`9 Recently epiretinal membranes were reported in seven ofnine patients withNF 2. An association was also suggested between optic disc glioma and NF 2. This observation was based on early published reports without providing a new case. " In this current study we examined patients with NF 2 to further define the ocular phenotype of this disease. Patients and methods Between September 1991 and June 1992 we prospectively examined six consecutive patients with NF 2. Nobody was excluded from the study. All patients were admitted to the neurosurgery department, except for patient 5 who had the eye examination while visiting her father (patient 4). The diagnosis was confirmed by neurosurgical biopsy in four patients and by neuroimaging in two. Patients 4 and 5 were father and daughter, the remaining four were unrelated. The eye examination included determination of visual acuity, biomicroscopy before and after pupillary dilatation with special attention to the presence of iris hamartomas and lens opacities, and dilated fundus examination. Patients 2, 3, and 6 had fluorescein angiography. The severity ofepiretinal membranes was graded according to Gass'2 into grade 0 ('cellophane' maculopathy), grade 1 ('crinkled cellophane' maculopathy), and grade 2 ('macular pucker').

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@inproceedings{Landau2003OcularFI, title={Ocular fundus in neurofibromatosis type 2 Klara Landau ,}, author={Klara Landau and GaziM Ya§argil}, year={2003} }