First genetic analysis of lattice corneal dystrophy type I in a family from Bulgaria.
OBJECTIVE
To report a new family belonging to a previously non-investigated geographic are a with a rare form of lattice corneal dystrophy (LCD).


METHODS
Detailed ophthalmologic analysis was carried out on a Bulgarian woman, enrolled for perforating keratoplasty. In order to obtain a final diagnosis both histology and genetic analysis were performed.


RESULTS
Upon transplantation, histologic analysis of the dystrophic cornea revealed the typical staining pattern and amyloid deposits of lattice corneal dystrophies. Genetic analysis of the subject and her daughter confirmed the presence of an autosomal dominant R124C mutation within exon 4 of the BIGH3 gene, encoding for keratoepithelin, while showing no abnormalities in her son.


CONCLUSIONS
The identification of this mutation allows the unambiguous classification of this corneal dystrophy as LCD type I. A first case of LCD I in a family from Eastern Europe could help to better clarify the molecular epidemiology of the disease.
Capoluongo
E
E
Institute of Chemistry of Molecular Recognition, CNR and Institute of Biochemistry and Clinical Biochemistry, Sacred Hearth Catholic University of Roma, Roma, Italy.
De Benedetti
G
G
Concolino
P
P
Sepe
M
M
Ambu
R
R
Faa
G
G
Sciandra
F
F
Santonocito
C
C
D'Alberto
A
A
Caselli
M
M
Brancaccio
A
A
D000293:Adolescent; D000328:Adult; D000682:Amyloid / Q000378:metabolism; D002031:Bulgaria / Q000453:epidemiology; D003317:Corneal Dystrophies, Hereditary / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D017720:Molecular Epidemiology; D010375:Pedigree; D017354:Point Mutation; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
D000682:Amyloid; D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein