A Korean Patient with Lattice Corneal Dystrophy Type IV with Leu527Arg Mutation in the TGFBI Gene
An 87-year-old woman visited our clinic for a scheduled cataract surgery. At the time of preoperative evaluation, mild localized semitransparent opacity was noted in both corneas. The opacity showed lattice-shaped, granular deposits with asymmetrical patterns in the stroma (). The right eye was more severely affected, showing nodulolinear amyloid deposits located mainly in the anterior stroma; the left eye showed less linear and macular opacity. The patient demonstrated a good visual outcome after the surgery, with a best-corrected visual acuity of 0.8 in both eyes.\nGenomic DNA samples from the patient were extracted from peripheral leukocytes using the Easy-DNA Kit (Invitrogen, Carlsbad, CA, USA). Polymerase chain reaction was performed on this genomic DNA with specific primers for the TGFBI gene (); the results showed a Leu527Arg mutation in the TGFBI gene (). In addition to the Leu527Arg mutation, two more single-nucleotide polymorphisms (SNPs) were also identified: a T>C variation at cDNA position 1620 resulting in Phe540Phe and a G>A variation at cDNA position 1678+23 ().\nThe patient's only family members, her son and granddaughter, did not show any corneal stromal manifestations. They also did not have any known mutations in the TGFBI gene specific for LCD type IV, though both showed the T>C variation at cDNA position 1620 and the G>A variation at cDNA position 1678+23, just as in the present case.