Gelatino-lattice corneal dystrophy: clinical features and mutational analysis.
OBJECTIVE
To report five unrelated Japanese individuals with "gelatino-lattice corneal dystrophy that clinically resembled, to some extent, gelatinous drop-like corneal dystrophy and lattice corneal dystrophy type 1.


METHODS
Genomic DNA isolated from the five individuals with "gelatino-lattice corneal dystrophy was used as a template for polymerase chain reaction to amplify all exons of the candidate gene betaig-h3 and M1S1. The polymerase chain reaction product was then sequenced.


RESULTS
In all cases, betaig-h3 was mutated in "gelatino-lattice corneal dystrophy (Arg124Cys), which is the same nucleotide change examined previously in lattice corneal dystrophy type 1. On the other hand, no mutation was detected in the entire coding region of M1S1.


CONCLUSIONS
Based on the results of this study, it is suggested that "gelatino-lattice corneal dystrophy may be a subtype of lattice corneal dystrophy type 1.
Nakamura
T
T
Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan. tnakamur@ohth.kpu-m.ac.j
Nishida
K
K
Dota
A
A
Adachi
W
W
Yamamoto
S
S
Maeda
N
N
Okada
M
M
Kinoshita
S
S
D000328:Adult; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology*; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins; D006801:Humans; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics*; D017354:Point Mutation; 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