We describe a patient with unilateral lattice corneal dystrophy (LCD) associated with a previously unreported pathogenic transforming growth factor beta-induced (TGFBI) variant (c.1864A>T, p.(Asn622Tyr)), contributing to the expanding phenotypic spectrum of non-R124C TGFBI-related LCD. A 58-year-old male patient presented with complaints of recurrent epithelial erosions and progressive vision loss in his right eye for the past 20 years. On slitlamp biomicroscopic examination of the patient's right eye, thick, branched lattice lines extended from the limbus to the central cornea. The lesions extended from the anterior to midstroma. Genetic analysis identified a heterozygous c.1864A>T (p.(Asn622Tyr)) TGFBI variant, classified as likely pathogenic based on the American College of Medical Genetics criteria. Importantly, this variant has not been reported in gnomAD, ClinVar, dbSNP, or the scientific literature, and it is therefore considered a novel TGFBI variant. This case represents a novel TGFBI variant (LCD-N622Y) associated with unilateral LCD, further underscoring the phenotypic variability of non-R124C TGFBI-related LCD. Recognition of unilateral or asymmetric presentations is essential to avoid misdiagnosis and to ensure appropriate genetic evaluation and family counseling.
EKİNCİKLİ et al. (Tue,) studied this question.