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Article

[Avellino dystrophy. Current diagnostic criteria].

Journal francais d'ophtalmologie - 1 Sept 2000

Dighiero P, Ellies P, Valleix S, D'hermies F, Savoldelli M, Pouliquen Y, Legeais J M, Renard G

Abstract excerpt

We report a French family suffering from an Avellino corneal dystrophy diagnosed by using clinical, histological, ultrastructural and genetics findings. Our results indicate that direct corneal examination and routine histological examinations must always be associated with an assay for BIGH3 gene mutations to establish a modern and unambiguous diagnosis of a corneal dystrophy.

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Share to Corneal Dystrophies, Hereditary
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 10992072

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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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