Cornea · 2026
Recurrence of Transforming Growth Factor Beta-Induced Gene Dystrophy Associated With the p.Met619Lys Mutation in the Posterior Stroma After Deep Anterior Lamellar Keratoplasty.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
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История · было → стало
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Venkatakrishnan Jhuwala, Ghaffari Reza, Glasgow Ben J, Aldave Anthony J
Аннотация
PURPOSE: To report the visually significant recurrence of the transforming growth factor beta-induced gene (TGFBI) dystrophy associated with p.Met619Lys mutation in the posterior stroma after deep anterior lamellar keratoplasty (DALK), necessitating penetrating keratoplasty (PK).
METHODS: Slit-lamp and anterior segment optical coherence tomography imaging were performed for 2 individuals with a variant TGFBI corneal dystrophy associated with the p.Met619Lys mutation. Histopathologic examination of the corneal buttons excised at the time of PK from each individual was performed.
RESULTS: An unrelated 58-year-old woman (case 1) and a 61-year-old man (case 2) with a variant TGFBI corneal dystrophy associated with p.Met619Lys mutation underwent manual (case 1) and big-bubble (case 2) DALK for visually significant dystrophic stromal deposits. Both individuals developed decreased vision approximately 5 years after DALK, attributed to recurrence of dystrophic deposits in the posterior stroma, necessitating PK in both individuals. Histopathologic examination of the excised residual posterior host stroma (case 1) and the excised posterior donor stroma (case 2) revealed dystrophic deposits that demonstrated staining with Masson trichrome and red-green dichroism with Congo red stain.
CONCLUSIONS: The TGFBI dystrophy secondary to the p.Met619Lys mutation is associated with recurrence of visually significant dystrophic deposits in the posterior stroma after DALK. Given the need for PK only 5 years after DALK in the cases that we report, we recommend genetic testing in individuals in whom a variant TGFBI corneal dystrophy is suspected, and the conversion to PK instead of DALK for such individuals if intraoperative baring of Descemet membrane cannot be achieved.
METHODS: Slit-lamp and anterior segment optical coherence tomography imaging were performed for 2 individuals with a variant TGFBI corneal dystrophy associated with the p.Met619Lys mutation. Histopathologic examination of the corneal buttons excised at the time of PK from each individual was performed.
RESULTS: An unrelated 58-year-old woman (case 1) and a 61-year-old man (case 2) with a variant TGFBI corneal dystrophy associated with p.Met619Lys mutation underwent manual (case 1) and big-bubble (case 2) DALK for visually significant dystrophic stromal deposits. Both individuals developed decreased vision approximately 5 years after DALK, attributed to recurrence of dystrophic deposits in the posterior stroma, necessitating PK in both individuals. Histopathologic examination of the excised residual posterior host stroma (case 1) and the excised posterior donor stroma (case 2) revealed dystrophic deposits that demonstrated staining with Masson trichrome and red-green dichroism with Congo red stain.
CONCLUSIONS: The TGFBI dystrophy secondary to the p.Met619Lys mutation is associated with recurrence of visually significant dystrophic deposits in the posterior stroma after DALK. Given the need for PK only 5 years after DALK in the cases that we report, we recommend genetic testing in individuals in whom a variant TGFBI corneal dystrophy is suspected, and the conversion to PK instead of DALK for such individuals if intraoperative baring of Descemet membrane cannot be achieved.