Work

Case Report: Post-LASIK exacerbation of granular corneal dystrophy type 2: a familial case with TGFBI mutation

Year: 2025

Type: article

Abstract: Purpose To demonstrate that LASIK is contraindicated in patients with granular corneal dystrophy through documentation of post-surgical disease exacerbation. Methods Comprehensive clinical evaluation including anterior segment photography and multimodal imaging were performed on the proband and affected family members. Genomic DNA was isolated from peripheral blood samples, and targeted sequence capture array technique followed by PCR and Sanger sequencing were employed for mutation identification. Results The proband presented with bilateral progressive vision loss following LASIK surgery performed at age 18. Anterior segment photography revealed extensive granular opacification within the corneal stroma, predominantly at the LASIK flap interface. Genetic analysis identified a heterozygous c.371G > A mutation in exon 4 of the TGFBI gene, resulting in a p. R124H substitution. This identical mutation was confirmed in 14 of 37 tested family members, demonstrating autosomal dominant inheritance. Conclusion LASIK surgery significantly accelerates granular corneal dystrophy type 2 progression through multiple pathophysiological mechanisms. Comprehensive preoperative assessment incorporating genetic screening for TGFBI mutations is essential to identify and exclude contraindicated candidates for refractive surgery.

Source: Frontiers in Medicine

DOI: 10.3389/fmed.2025.1721130