[Avellino dystrophy. Current diagnostic criteria].
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.
Dighiero
P
P
Service d'Ophtalmologie, Hôtel Dieu, 1, place du Parvis Notre-Dame, F-75181 Paris cedex 04, France.
Ellies
P
P
Valleix
S
S
D'hermies
F
F
Savoldelli
M
M
Pouliquen
Y
Y
Legeais
J M
JM
Renard
G
G
D000328:Adult; D003315:Cornea / Q000473:pathology / Q000648:ultrastructure; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D004247:DNA / Q000032:analysis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction
D004247:DNA