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Article

Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene.

Ophthalmic genetics - 1 Jun 1996

Kellner U, Fuchs S, Bornfeld N, Foerster M H, Gal A

Abstract excerpt

PURPOSE: To describe the ocular phenotypes associated with 2 mutations in the Norrie disease gene including a manifesting carrier. METHODS: Ophthalmological examinations were performed in 2 affected males and one manifesting carrier. Genomic DNA was analyzed by direct sequencing of the Norrie disease gene. RESULTS: Family I: A 29-year-old male had the right eye enucleated at the age of 3 years. His left eye...

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PMID: 8832723
DOI: 10.3109/13816819609057873

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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