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Matthias Feucht, MD; Lan Kluwe, PhD; Victor-Felix Mautner, PhD; Gisbert Richard, PhD

Arch Ophthalmol. 2008;126(10):1376-1380.

Background  Neurofibromatosis 2 (NF2) is an autosomal dominant disease that is characterized by nervous system tumors and ocular abnormalities.

Objective  To investigate genotype-phenotype correlations demonstrated for NF2-associated nervous system tumors, cataracts, and retinal lesions.

Methods  Forty-eight patients with NF2 from a tertiary neurological referral center underwent screening for constitutional NF2 mutations with multiple screening methods. Each patient underwent a complete ophthalmic examination, including fluorescein angiography to detect retinal vascular lesions.

Results  Retinal abnormalities (epiretinal membranes or retinal microaneurysms) were present in 25 of the 48 patients (52%). The occurrence of epiretinal membranes and retinal microaneurysms was highly correlated, but retinal abnormalities were not significantly correlated with cataracts (present in 39 of 47 patients [83%]). Logistic regression with full constitutional nonsense or frameshift mutations as the reference group demonstrated that somatic mosaicism was associated with a significantly lower likelihood of retinal abnormalities (odds ratio, 0.05; 95% confidence interval, 0.01-0.49).

Conclusions  To our knowledge, this is the first genetic, clinical, and angiographic characterization of retinal abnormalities in NF2. Severe mutations are correlated with a more severe retinal involvement.

Clinical Relevance  Retinal abnormalities, which can be revealed by means of fluorescein angiography, are more common in patients with NF2 who have nonsense or frameshift mutations.

Author Affiliations: Departments of Ophthalmology (Drs Feucht and Richard) and Maxillofacial Surgery (Drs Kluwe and Mautner), University Medical Center Hamburg-Eppendorf, Hamburg, Germany; and Katharinenhospital Eye Hospital, Stuttgart, Germany (Dr Feucht).

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