Analysis of VSX1 Variations in Brazilian Subjects with Keratoconus.

Conclusion: VSX1 polymorphisms found in the Brazilian population support a genetic component in KCN pathogenesis. L68H is a novel mutation, and the phenotypic data suggest that this mutation might enhance disease severity when combined with other polymorphisms. However, further investigations are needed. PMID: 30090183 [PubMed]
Source: Journal of Ophthalmic and Vision Research - Category: Opthalmology Tags: J Ophthalmic Vis Res Source Type: research