Avellino corneal dystrophy

Authors
Dighiero, P Ellies, P Valleix, S D'Hermies, F Savoldelli, M Pouliquen, Y Legeais, JM Renard, G
Citation
P. Dighiero et al., Avellino corneal dystrophy, J FR OPHTAL, 23(7), 2000, pp. 735-737
Citations number
5
Categorie Soggetti
Optalmology
Journal title
JOURNAL FRANCAIS D OPHTALMOLOGIE
ISSN journal
01815512 → ACNP
Volume
23
Issue
7
Year of publication
2000
Pages
735 - 737
Database
ISI
SICI code
0181-5512(200009)23:7<735:ACD>2.0.ZU;2-Q
Abstract
We report a French family suffering from an Avellino corneal dystrophy diag nosed by using clinical, histological, ultrastructural and genetics finding s. Our results indicate that direct corneal examination and routine histolo gical examinations must always be associated with an assay for BIGH3 gene m utations to establish a modern and unambiguous diagnosis of a corneal dystr ophy.