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Article

Anophthalmia and microphthalmia.

Orphanet journal of rare diseases - 26 Nov 2007

Verma Amit S, Fitzpatrick David R

Abstract excerpt

Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these conditions is up to 30 per 100,000 population, with microphthalmia reported in up to 11% of blind children. High-resolution cranial imaging, post-mortem examination and genetic studies suggest that these conditions represent a phenotypic continuum....

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Source

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Identifiers

PMID: 18039390
DOI: 10.1186/1750-1172-2-47
PMCID: PMC2246098

Genes

OTX2
PAX6
RAX
SOX2
FOXE3

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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