| 본문 : Purpose: To present a patient clinically diagnosed with Granular corneal dystrophy type 2 but genotypically proven to have R124C mutation in TGFBI (transforming growth factor β–induced gene) which is associated with lattice lattice corneal dystrophy type 1.
Case report : A 22-year-old female patient with no prior history of ocular surgery presented with progressive visual disturbance. Her initial visual acuity was 20/60 in both eyes. Meticulous slit lamp examination was performed and the depths of the corneal deposits were identified using Fourier Domain Optical Coherence Tomography. Peripheral blood was drawn for DNA analysis and genomic sequencing of TGFBI was analyzed to identify the mutation. The patient’s maternal uncle, a 40-year-old male, and her maternal grandmother, a 65-year-old female, were also examined. Slit lamp examination revealed bilateral subepithelial and anterior stromal granular opacities and lattice lines in the deeper stroma. DNA sequencing revealed a heterozygous Arg124Cys (R124C) mutation in the coding sequence of TGFBI gene on chromosome 5q31. Similar patterns of corneal deposits were exhibited in the patient’s uncle and grandmother, although more widespread and diffusely penetrating throughout the cornea layer.
Conclusions: Although R124C mutation of TGFBI is known to be associated with lattice corneal dystrophy type 1, it can manifest clinical characteristics of granular corneal dystrophy type 2 as granular and lattice deposits.
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