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Article

Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation.

Eye (London, England) - 1 Jan 2005

Diaper C J M, Schorderet D F, Chaubert P, Munier F L

Abstract excerpt

A family was previously reported as suffering from severe granular dystrophy. The phenotypic picture suggested a mix of homozygous and heterozygous family members. Genetic analysis confirms the homozygousity in the patients most severely affected, but shows the disease state to be one of Avellino corneal dystrophy. The previous case reports are extended immunohistological staining using polyclonal antibodies...

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PMID: 15094731
DOI: 10.1038/sj.eye.6701398

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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