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Article

VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.

Investigative ophthalmology & visual science - 1 Jan 2005

Bisceglia Luigi, Ciaschetti Marilena, De Bonis Patrizia, Campo Pablo Alberto Perafan, Pizzicoli Costantina, Scala Costanza, Grifa Michele, Ciavarella Pio, Delle Noci Nicola, Vaira Filippo, Macaluso Claudio, Zelante Leopoldo

Abstract excerpt

PURPOSE: Keratoconus is a noninflammatory corneal disorder that is clinically and genetically heterogeneous. Mutations in the VSX1 (visual system homeobox 1) gene have been identified for two distinct, inherited corneal dystrophies: posterior polymorphous corneal dystrophy and keratoconus. To eva...

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Source

Identifiers

PMID: 15623752
DOI: 10.1167/iovs.04-0533

Genes

VSX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15623752-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.PMID 15623752Read ↗

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