Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene.

PURPOSE To report a novel mutation in the TGFBI gene, c.1761_1763del (p.His572del), associated with a unilateral variant of lattice corneal dystrophy (LCD). METHODS A 63-year-old man presenting with the complaint of decreased vision in one eye was noted to have a unilateral lattice corneal dystrophy. Examination of the patient's wife and two sons, ages 20 and 27 years old, failed to reveal the presence of any corneal opacities. Following the collection of DNA from the patient and his family members, the TGFBI gene was screened for mutations previously associated with lattice corneal dystrophy and any novel coding region changes. RESULTS In the affected patient, none of the mutations previously associated with the classic and variant forms of LCD were identified. However, a novel mutation, c.1761_1763del (p.His572del), was identified in exon 13 of TGFBI in the patient and his sons. This mutation was not identified in the patient's wife or in 200 control chromosomes. CONCLUSIONS The novel TGFBI gene mutation (p.His572del) is associated with a unilateral, late-onset variant of lattice corneal dystrophy. This case highlights the utility of molecular genetic analysis in differentiating corneal dystrophies associated with an atypical phenotype from nondystrophic conditions.