Franceschetti Hereditary Recurrent Corneal Erosion

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• 作者：Walter Lisch^a ; ^{prof.dr.lisch@augenklinik-hanau.de}  ; [Author Vitae] ; Anthony J. Bron^b ; Francis L. Munier^c ; ^d ; Daniel F. Schorderet^d ; Leila Tiab^d ; Clemens Lange^e ; Parykshit Saikia^f ; Thomas Reinhard^e ; Jayne S. Weiss^g ; Enken Gundlach^e ; Uwe Pleyer^h ; Christina Lisch^f ; Claudia Auw-Haedrich^e
• 刊名：American Journal of Ophthalmology
• 出版年：2012
• 期刊代码：7_00029394
• 类别：med
• 出版时间：June, 2012
• 卷：153
• 期：6
• 页码：1073-1081.e4
• 文件大小：5103 K

摘要

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Purpose

To describe new affected individuals of Franceschetti's original pedigree of hereditary recurrent erosion and to classify a unique entity called Franceschetti corneal dystrophy.

Design

Observational case series.

Methods

Slit-lamp examination of 10 affected individuals was conducted. Biomicroscopic examinations were supplemented by peripheral corneal biopsy in 1 affected patient with corneal haze. Tissue was processed for light and electron microscopy and immunohistochemistry was performed. DNA analysis was carried out in 12 affected and 3 nonaffected family members.

Results

All affected individuals suffered from severe ocular pain in the first decade of life, attributable to recurrent corneal erosions. Six adult patients developed bilateral diffuse subepithelial opacifications in the central and paracentral cornea. The remaining 4 affected individuals had clear corneas in the pain-free stage of the disorder. Histologic and immunohistochemical examination of the peripheral cornea in a single patient showed a subepithelial, avascular pannus. There was negative staining with Congo red. DNA analysis excluded mutations in the transforming growth factor beta-induced (TGFBI) gene and in the tumor-associated calcium signal transducer 2 (TACSTD2) gene.

Conclusion

We have extended the pedigree of Franceschetti corneal dystrophy and elaborated its natural history on the basis of clinical examinations. A distinctive feature is the appearance of subepithelial opacities in adult life, accompanied by a decreased frequency of recurrent erosion attacks. Its clinical features appear to distinguish it from most other forms of dominantly inherited recurrent corneal erosion reported in the literature.