分期角膜缘干细胞移植和角膜移植手术治疗胶质滴状角膜营养不良。

Tayaba N Azher, Amanda C Maltry, Joshua H Hou
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引用次数: 0

摘要

凝胶滴状角膜营养不良(GDLD)是一种罕见的常染色体隐性角膜营养不良,与TACSTD2 (M1S1)基因突变有关,该基因通常在角膜上皮细胞中表达。GDLD的特点是角膜基质中淀粉样蛋白的进行性沉积,在穿透性角膜移植术后移植物中迅速复发。我们报告一例患者的GDLD治疗双侧分阶段角膜缘干细胞移植和穿透性角膜移植术,导致长期控制他的疾病。本病例表明,在穿透性角膜移植术之前或之后,分期同种异体角膜缘干细胞移植可用于恢复GDLD患者的长期视力。
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Staged limbal stem cell transplantation and keratoplasty surgeries as a treatment for gelatinous drop-like corneal dystrophy.

Gelatinous drop-like corneal dystrophy (GDLD) is a rare autosomal recessive corneal dystrophy that has been associated with mutations in the TACSTD2 (M1S1) gene, which is normally expressed in corneal epithelial cells. GDLD is characterized by progressive deposition of amyloid in the corneal stroma with rapid recurrence in grafts after penetrating keratoplasty. We report of case of a patient with GDLD treated bilaterally with staged limbal stem cell transplantation and penetrating keratoplasty that resulted in long-term control of his disease. This case demonstrates that staged allogenic limbal stem cell transplantation, before or after penetrating keratoplasty, can be used to restore vision long-term in GDLD patients.

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