[Case of late onset and isolated lattice corneal dystrophy with Asn544Ser (N544S) mutation of transforming growth factor beta-induced (TGFBI, BIGH3) gene].
OBJECTIVE
To report a case of lattice corneal dystrophy (LCD) with Asn544Ser (N544S) mutation of the transforming growth factor beta-induced (TGFBI) gene.


METHODS
A 68-year-old male patient with late-onset, sporadic LCD without corneal erosion. Amyloid deposits showing dot and lattice lines were seen in the mid to deep stroma. After obtaining appropriate informed consent, genomic DNA was amplified by polymerase chain reaction (PCR) and directly sequenced.


RESULTS
A heterozygous single base pair transition (AAT --> AGT), resulting in substitution of serine for asparagine at codon 544 of the TGFBI gene, was detected.


CONCLUSIONS
The case was classified as atypical type IV because of the late onset, lack of corneal erosion, and amyloid deposits in the mid to deep stroma.
Nakagawa Asahina
Shoko
S
Department of Ophthalmology, Juntendo Tokyo Koto Geriatric Medical Center, Japan.
Fujiki
Keiko
K
Enomoto
Yoichi
Y
Murakami
Akira
A
Kanai
Atsushi
A
D000368:Aged; D003062:Codon / Q000235:genetics*; D003317:Corneal Dystrophies, Hereditary / Q000145:classification / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
D003062:Codon; D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein