Histopathologic And Ultrastructure Changes And Treatment Of Reis-Bucklers Corneal Dystrophy

Abstract ObjectiveTo explore the genetic examination,the histopathologic and ultrastructure changes of Reis-Bucklers corneal dystrophy(RBCD).And to explore the relationship between clinical manifestations and to observe the therapeutic effect of patients.MethodsThe object of study was a consanguineous marriage RBCD corneal dystrophy pedigree with a total of 37 cases.All patients underwent a complete ophthalmological examination including slitlamp biomicroscopy,in vivo confocal microscopy(IVCM)and anterior segment(AS)optical coherence tomography(OCT).The peripheral blood of 10 patients with corneal dystrophy was extracted and DNA was confirmed to confirm the mutation site.Cornea buttons were obtained from patients in 1 pedigreess who underwent lamella keratoplasty.Sections with HE and special staining which include symplectic blue staining and Masson staining and Congo red stainingwere observed under light microscope.Two normal cornea specimens were used as control.Results(1)Reis-Bucklers corneal malnutrition in patients with mutations to chromosome 5 TGFB1,mutation of 124 amino acids,124th arginine is leucine replaced(R124L).(2)RBCD patients showed rough corneal epithelium,Corneal epithelium and under the corneal epithelium were gray opacity.(3)Eye Anterior OCT showed that the bowman's membrane disappeared and was substituted by abnormal tissue.(4)RBCD patients with corneal layer thickness on the base layer cell edema obesity and abundant cytoplasm which dyed two-tone,bowman 's membrane disappeared.(5)A small amount of basal cells present columnar change,however,most of the basal cell morphology were irregular in formation.Desmosomes connection between cells disappeared while swelling cell mitochondria can be seen in the cytoplasm vacuoles.A small mass rod-shape deposits were seen along the gap of basal cells.(6)In vivo Confocal Microscopy(IVCM)showed that some patients of corneal epithelium and former elastic layer visible under a large number of acicular,rod-shaped high-density sediment,matrix involvement.Some patients before the corneal epithelium and elastic layer irregular holes and cracks,substrate layer.A large part of the patients with corneal epithelial cells,arranged neatly.Almost the majority of patients whose central and deep stromal catch sight of nerve without high reflective signal.The vast majority of patients with corneal endothelial cells did not see abnormalities.ConclusionReis-Bucklers gene mutations in the corneal dystrophy family of patients with chromosome 5 TGFB1,124 amino acid arginine is replaced by leucine.The Reis-Bucklers corneal malnutrition family for pattern change,corneal abnormalities and material properties as extracellular amyloid protein fiber AD cool-headed.