関連する実験動画
Updated: May 12, 2026
Ex Vivo Corneal Organ Culture Model for Wound Healing Studies
Published on: February 15, 2019
症例報告：顆粒状角膜ジストロフィー2型に対するLASIK術後の増悪：TGFBI変異を伴う家族例
Longhao Kuang1, Xuanjun Zhang1,2, Yufang Wang3
1Shenzhen Eye Hospital, Shenzhen Eye Medical Center, Southern Medical University, Shenzhen, China.
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.
