RESUMEN
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.
Asunto(s)
Distrofias Hereditarias de la Córnea/complicaciones , Adulto , Anciano , Anciano de 80 o más Años , Antígenos de Neoplasias/genética , Biomarcadores/metabolismo , Biopsia , Cadherinas/metabolismo , Moléculas de Adhesión Celular/genética , Niño , Condroitín/metabolismo , Claudinas/metabolismo , Distrofias Hereditarias de la Córnea/genética , Distrofias Hereditarias de la Córnea/metabolismo , Opacidad de la Córnea/etiología , Análisis Mutacional de ADN , Decorina/metabolismo , Dermatán Sulfato/metabolismo , Proteínas de la Matriz Extracelular/genética , Proteínas de la Matriz Extracelular/metabolismo , Dolor Ocular/etiología , Femenino , Humanos , Inmunohistoquímica , Masculino , Linaje , Recurrencia , Factor de Crecimiento Transformador beta/genética , Factor de Crecimiento Transformador beta/metabolismoRESUMEN
A patient who had been taking an oral L-arginine-based body-building supplement developed bilateral diffuse subconjunctival hemorrhages, circumcorneal dilated vessels, and peripheral corneal infiltrates after bilateral laser in situ keratomileusis. There is limited information regarding the efficacy, safety, and constituents of nutritional supplements because the U.S. Food and Drug Administration regulates them differently than prescription medications, and they do not require approval prior to marketing. These products may result in adverse effects as evidenced by the subconjunctival hemorrhages (an exaggerated vasodilator and antithrombotic effect of nitric oxide formed from arginine) and peripheral corneal infiltrates in this case. The case highlights the importance of eliciting a history of nutritional supplement and/or herbal medication use, especially in patients scheduled to have surgery.