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Article

Effects of PAX6 mutations on retinal function: an electroretinographic study.

American journal of ophthalmology - 1 Aug 1998

Tremblay F, Gupta S K, De Becker I, Guernsey D L, Neumann P E

Abstract excerpt

PURPOSE: To investigate the retinal function in aniridic patients with documented PAX6 mutations to determine the range of electroretinogram abnormalities in aniridic patients and to relate electroretinogram findings with specific PAX6 mutations. METHODS: Eleven patients with typical aniridia and fully characterized PAX6 mutations underwent electroretinography. RESULTS: In all 11 patients, electroretinogram...

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Source

Identifiers

PMID: 9727515
DOI: 10.1016/s0002-9394(98)00190-1

Genes

PAX6

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Effects of PAX6 mutations on retinal function: an electroretinographic study.PMID 9727515Read ↗

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Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus.Semantic proximity Read ↗

Non-invasive anterior segment and posterior segment optical coherence tomography and phenotypic characterization of aniridia.Semantic proximity Read ↗

Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease.Semantic proximity Read ↗

Positive angle kappa: a possible sign of aniridia.Semantic proximity Read ↗

Aniridia with preserved visual function: a report of four cases with no mutations in PAX6.Semantic proximity Read ↗

Eye anomalies and neurological manifestations in patients with PAX6 mutations.Semantic proximity Read ↗

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