Gelatinous drop-like corneal dystrophy is not one of the beta ig-h3-mutated corneal amyloidoses.
OBJECTIVE
To discover if beta ig-h3 is mutated in gelatinous drop-like corneal dystrophy, as has been suggested.


METHODS
Genomic DNA was isolated from unrelated individuals with lattice corneal dystrophy type I (n = 3), Avellino corneal dystrophy (n = 3), and gelatinous drop-like corneal dystrophy (n = 3) and used as a template for polymerase chain reaction to amplify all exons in beta ig-h3. The polymerase chain reaction product was then sequenced.


RESULTS
Beta ig-h3 is mutated in lattice corneal dystrophy type I (Arg124Cys) and Avellino corneal dystrophy (Arg124His). In gelatinous drop-like corneal dystrophy, on the other hand, no mutation was detected in the entire coding region of beta ig-h3 (all 17 exons).


CONCLUSIONS
Unlike the amyloidotic corneal dystrophies lattice type I and Avellino, gelatinous drop-like corneal dystrophy is not likely to be caused by a mutation in beta ig-h3.
Dota
A
A
Department of Ophthalmology, Kyoto Prefectural University of Medicine, Japan.
Nishida
K
K
Honma
Y
Y
Adachi
W
W
Kawasaki
S
S
Quantock
A J
AJ
Kinoshita
S
S
D000686:Amyloidosis / Q000235:genetics*; D003315:Cornea / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins; D006801:Humans; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
D016326:Extracellular Matrix Proteins; D009363:Neoplasm Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein