3312 Macular corneal dystrophy in Iceland: A immunohistochemical and genealogical study of 28 cases
نویسندگان
چکیده
w The human wrnea is a densely innervated struchxe. However, data on nerve fiber (NF) distribution in tbe human cornea are scarce possibly due to fast post mortem degeneration. Therefore, moat descriptions on comeal innervation are based on studies in rats and rabbits. Tbe present study is focussed on the ulaastruaure of NF’s in the central and peripheral human cornea. Methods: Tissue samples of five corneas obtained from melanoma eyes were processed for light and electron microscopy (EM). Both frontal and cross-sections of stroma and epitbelium were studied. Ultrathin stromal and ultrathin serial sections between Bowman’s Membrane (BM) and the basal &helium were cut. Stmmai and subepitbeliai axon diameters were n&wed on EM micrographs. Egulls; Unmyelinated NF’s containing both clear and dense cored vesicles run parallel to tbe collagen fibers in the upper third of the central stroma. They consist of up to 30 fibers (diam. 0.5-2.5 pm) which are ensheathed by thin rims of Schwann cell protrusions and amorphic matrix. Some of these NF’s, containing glycogen particles, invaginate the cytoplasm of the stmmal keratocytes. After passing through BM, central stromal NF’s (diam. 0.05-0.5 @II), run parallel between BM and epitbelium. At the location of the variwsities, fibers measure up to 2 pm due to the presence of many mitochondria. These fibers turn upwards and protrude mainly into the basal cells and sometimes into the wing cells. Reconstruction of NF’s in semithin sections revealed that subepitbelial fibers, having one or more bifurcations, run in a 12h-6h direction in the centre and in a 3h-9h direction in the periphery. In contrast to the central cornea, myelinated fibers were only found in the peripheral limbal stroma. Conclusion: NF’s invaginating epitbelial cells and keratocytes suggest that both epitbelium and stromal keratocytes are directly innervated. Tbe numemua mitochondria present in tbe varicosities point at fibers from sensory nerves. Therefore, the conclusion seems to be justified that the presence of clear and dense cored vesicles in NF’s of sSroma and subepithelium point at either an adrenergic or an cholinergic input from sensory origin.
منابع مشابه
Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland.
PURPOSE To identify CHST6 mutations in five additional Icelandic cases of macular corneal dystrophy (MCD) type I and in four families with MCD type II from Iceland. METHODS Genomic DNA was extracted from blood leukocytes of patients with MCD, their healthy family members, and from control individuals. CHST6 mutations were determined by PCR-sequencing. Immunophenotypes of MCD were determined b...
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Macular corneal dystrophy (MCD) is an autosomal recessive hereditary disease. In most cases, various mutations in carbohydrate sulfotransferase 6 (CHST6) gene are the main cause of MCD. These mutations lead to a defect in keratan sulfate synthesis. Retinitis pigmentosa (RP) is another eye disorder with nyctalopia as its common symptom. It has been shown that more than 65 genes have been implica...
متن کاملMutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland.
PURPOSE Macular corneal dystrophy (MCD) is subdivided into three immunophenotypes (MCD types I, IA and II). Recently, mutations in the carbohydrate sulfotransferase 6 gene (CHST6) were identified to cause MCD. The purpose of this study was to examine CHST6 for mutations in Icelandic patients with MCD type I. METHODS Genomic DNA was extracted from leukocytes in the peripheral blood and the cod...
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Backgrounds Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare genetic disorder caused from mutations in the Cadherin 3 (CDH3) gene. Results In the present study, we reported an Iranian family with three affected members born to a consanguineous parent. Mutational analysis using whole exome sequencing has revealed a nucleotide change in CDH3 gene (NM_001793:exon8:c.830delG) which l...
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INTRODUCTION Corneal dystrophy is defined as bilateral and symmetric primary corneal disease, without previous associated ocular inflammation. Corneal dystrophies are classified according to the involved corneal layer in superficial, stromal, and posterior dystrophy. Incidence of each dystrophy varies according to the geographic region studied. PURPOSE To evaluate the prevalence of stromal co...
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ورودعنوان ژورنال:
- Vision Research
دوره 35 شماره
صفحات -
تاریخ انتشار 1995