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Article

Correlation of nonsense and frameshift mutations with severity of retinal abnormalities in neurofibromatosis 2.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Oct 2008

Feucht Matthias, Kluwe Lan, Mautner Victor-Felix, Richard Gisbert

Abstract excerpt

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...

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PMID: 18852415
DOI: 10.1001/archopht.126.10.1376

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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