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Article

Heavy-chain amyloidosis in TGFBI-negative and gelsolin-negative atypical lattice corneal dystrophy.

Cornea - 1 Oct 2011

Pradhan Monika A, Henderson Ross A, Patel Dipika, McGhee Charles N J, Vincent Andrea L

Abstract excerpt

PURPOSE: An atypical case of late-onset lattice corneal dystrophy is described in a 61-year-old man without a family history of eye disease. Mutational analysis of the TGFBI gene excluded any pathogenic sequence variants. However, 2 years later, renal impairment and nephrotic syndrome were diagnosed, resulting in a diagnosis of systemic heavy-chain amyloidosis. METHODS: Slit-lamp examination, corneal photography,...

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Source

Identifiers

PMID: 21743312
DOI: 10.1097/ICO.0b013e31821142b5

Genes

TGFBI

Provenance

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