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PubMed1984

Defective processing of keratan sulfate in macular corneal dystrophy.

Macular corneal dystrophy is a human genetic disorder characterized by corneal opacities that arise, in part, from a failure to synthesize mature keratan sulfate proteoglycans. The macromolecules in macular corneas and in keratoconus corneas, an abnormality not involving proteoglycans, were biosynthetically labeled with [3H]mannose and [14C]glucosamine in organ culture, and the keratan sulfate proteoglycans were immunoprecipitated with antibodies against the protein core of monkey keratan sulfate proteoglycan. The chondroitin sulfate proteoglycans, which did not react with the antibody, were oversulfated in corneas from patients with macular corneal dystrophy. Characterization of the immunoprecipitates showed that macular corneas did not make keratan sulfate proteoglycan but did synthesize an immunoreactive glycoprotein in nearly equal amounts as keratan sulfate proteoglycan was synthesized by the keratoconus cornea. The oligosaccharides on the immunoprecipitated macular glycoprotein appeared to be normal. However, the macromolecules contained an unsulfated glycoconjugate that was nearly as large as the normal keratan sulfate chains isolated from the keratoconus keratan sulfate-proteoglycan and contained the same relative proportions of labeled glucosamine, mannose, and fucose. This glycoconjugate was resistant to digestion with keratanase. These observations indicate that macular corneal dystrophy is caused by an error in the synthesis of keratan sulfate, possibly involving the specific sulfotransferases involved in sulfation of the lactosaminoglycan backbone of the chains.

Animals↗

PubMed1984

Recurrence of the clinical signs of lattice corneal dystrophy (type I) in corneal transplants.

Lattice corneal dystrophy (type I) is characterized by branching stromal lattice figures, white subepithelial opacities, and anterior stromal haze. Corneal transplantation is often required to restore the vision of patients with lattice corneal dystrophy. Our retrospective study of 61 penetrating keratoplasties in 39 patients with lattice corneal dystrophy found clinical signs of lattice corneal dystrophy in 29 transplants (48%) after periods ranging from three to 26 years. Subepithelial opacities or anterior stromal haze or both were the most common signs of recurrence. Lattice figures appeared in only one graft. Regrafting was necessary to restore vision in eight cases (15%) in which primary corneal transplantation had been performed for this condition.

Adult↗

PubMed1979

[Reduced production of aqueous humor in Fuch's corneal dystrophy].

Fuchs' corneal dystrophy is associated with a reduced production of the aqueous humor, as can be established via tonography. The trophopathy and cornea guttata caused thereby are prerequisites for the production of Fuchs' corneal dystrophy. The aqueous humor production should be examined before keratoplasty, since the prognosis is questionable if the production is low. If no improvement of visual acuity can be excepted, keratoplasty should not be performed, since pain has also been relieved by means of intracorneal acrylate implantates.

Acrylates↗

PubMed2006

[The different opacity patterns of Lisch corneal dystrophy].

BACKGROUND: Lisch corneal dystrophy is an epithelial corneal dystrophy where diffuse gray corneal opacifications are seen in direct illumination that appear in different patterns. Examination in retroillumination shows that these gray changes do consist of multiple densely crowded clear microcysts according to the opacity units. We wanted to investigate if one single case of Lisch corneal dystrophy can be differentiated easily from the other epithelial corneal dystrophies by exact analysis of the opacity units. PATIENTS AND METHODS: We examined three non-related patients with Lisch corneal dystrophy at the slit-lamp. The epithelial corneal opacities were documented photographically with direct slit-lamp illumination and retroillumination. RESULTS: All three patients showed the characteristic intraepithelial densely crowded clear microcysts in retroillumination. Diffuse gray radial opacities were noted in both corneas of a 15-year-old female patient. A club-shaped opacity was noted in one cornea of a 35-year-old female patient and a feathery gray opacity pattern was found in one cornea of a 49-year-old male patient. All three patients showed the characteristic densely crowded clear microcysts of Lisch corneal dystrophy in retroillumination. CONCLUSION: Taking the previous literature into account, five different opacity patterns can be summarised: radial, band, flame/feathery, whorled and club-shaped gray epithelial corneal opacities. A single case of Lisch corneal dystrophy can be differentiated from other epithelial corneal dystrophies by means of an exact analysis of the opacity pattern and units by slit-lamp examination.

Adolescent↗

PubMed1991

[Familial form of gelatin drop corneal dystrophy].

We report 4 cases of gelatin drop dystrophy corneal amyloidosis in two brothers and two sisters of the same family. The age of onset is between 1 and 10 years. The corneal signs are described at different stages of development. Lesions are initially asymmetrical. The typical is a subepithelial nodule starting in the center and then expanding to involve the whole cornea. There is no relationship between extension and outcome of the disease. Diagnostic is confirmed by histological examination. There was no consanguinity between parents and no other cases were found in the family. An immunological study with HLA typing was performed. All patients were treated with lamellar or transfixing keratoplasty with a follow-up of 2 to 5 years.

Adolescent↗

PubMed1988

Heterogeneity in macular corneal dystrophy.

Macular corneal dystrophy is an autosomal recessive disorder in which abnormal deposits in the corneal stroma have been identified. We examined the corneal buttons of 12 patients, who had clinical features of macular dystrophy, by histochemical staining, transmission electron microscopy, and immunohistochemical techniques. All corneas exhibited positive staining with Muller Mowry's colloidal iron. Using monoclonal antibodies 1/20/5-D-4, J-10, J-19, and J-36 that recognize specific sites on the sulfated keratan sulfate molecule, we stained corneal sections by an avidin-biotin-peroxidase complex method and identified two groups of macular corneal dystrophy. One group consisting of four corneas reacted positively with all four antibodies, and the other group consisting of eight corneas did not react with any of the antibodies used. These results confirmed those recently presented by Yang et al that there may be subgroups of macular dystrophy that can be identified by immunohistochemical methods. Also, serum levels of sulfated keratan sulfate were determined in seven patients. One patient who displayed a normal level of serum keratan sulfate had positive corneal immunoreactivity. Of the six patients who lacked serum keratan sulfate, four showed negative and two had positive corneal immunostaining, suggesting at least three subgroups in the disease. An attempt was made to correlate the clinical features, histochemical-staining characteristics, and ultrastructural morphology with the immunoreactivity to keratan sulfate antibodies, but no correlations could be made.

Adult↗

PubMed2000

Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy.

PURPOSE: To analyze BIGH3 and M1S1 genes in two Japanese brothers with gelatinous drop-like corneal dystrophy and five unaffected family members. METHODS: DNA was extracted, and each part of the two genes was amplified and directly sequenced. RESULTS: On the BIGH3 gene, a heterozygous P501T mutation was found in the elder brother and three unaffected family members. On the M1S1 gene, both brothers with gelatinous drop-like corneal dystrophy showed a homozygous Q118X mutation, whereas all unaffected members were heterozygous. CONCLUSIONS: The Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy. Although the P501T of the BIGH3 gene found in this pedigree was precisely the one reported for lattice corneal dystrophy IIIA, no clinical feature was shown, even in the 85-year-old father. This fact shows that the P501T mutation for LCDIIIA has low penetrance.

Adult↗

PubMed1976

Corneal transplant for therapy of primary corneal dystrophies.

Penetrating corneal transplants for primary corneal dystrophies such such as keratoconus and Fuchs dystrophy, and for hereditary dystrophies such as granular, lattice, and macular have an excellent prognosis of 95% or more for a clear graft and good vision in the series presented. These dystrophies are rarely associated with corneal vascularization, unless induced by silk sutures, knots of sutures, exudate, or repeated operations. Accordingly, the incidence of homograft rejection is reduced. However, there is a slower rate of healing, especially with nylon sutures which should not be removed for at least six months. The use of steroids, especially with intensive administration topically or over a long period of time, subconjunctival injection of repository forms, or theoretically at least, systemic administration, can be followed by posterior subcapsular lens opacities which may remain stationary if medication is stopped. Unfortunately, within several years the hereditary dystrophies may slowly develop a recurrence of the dystrophy in the graft requiring reoperation.

Age Factors↗

PubMed1982

Transmission and scanning electron microscopic studies on endothelial cells in macular corneal dystrophy.

Macular corneal dystrophy of both eyes in a 50-year-old man was studied by light microscopy and transmission and scanning electron microscopies. The endothelial cells contained empty vacuoles and numerous granules stained with alcian blue and periodic acid fuchsin. The endothelial cells were thin, especially at the guttata excrescences of the Descemet's membrane. Transmission electron microscopy revealed two types of vacuoles in the endothelium. The first type, which has been reported before, contained fine fibrillar material. The second type, described for the first time in this paper, was larger in size than the first type, and contained mostly amorphous material which appeared at the same electron density as the empty space of the anterior chamber, while a small amount of fibro-membranous materials were occasionally seen in the vacuoles. The second type of vacuoles sometimes appeared to be flattened. Cytoplasmic organelles of the endothelial cells and endothelial junctions were normal. Endothelial cells at the guttata excrescences were thin and contained only fine filaments. Slight depressions were observed on the endothelial surface facing the anterior chamber. Scanning electron microscopy of the endothelium showed an irregular surface which was composed of craters, nodules and pits. The cytoplasmic membrane of the endothelial cells at the top of the craters were continuous with that at the bottom of the craters. Marginal folds of the endothelial cells were obscure. Vacuoles of the first type were identical to those seen in the keratocytes of this disease. The second type of vacuoles and the guttata excrescences of the Descemet's membrane were thought to represent the craters and nodules on the endothelial surface.

Adult↗

PubMed2004

Novel mutations in the CHST6 gene causing macular corneal dystrophy.

Macular corneal dystrophy (MCD) is an autosomal recessive disease characterized by corneal opacities and caused by mutations in a carbohydrate sulfotransferase gene, known as CHST6. MCD type I patients show missense mutations in the CHST6-coding region, and MCD type II patients show a large deletion and replacement in the upstream region of CHST6. The objective of this study was to identify the genetic defect in CHST6 gene causing MCD in Italian families. We investigated MCD genotype by using polymerase chain reaction followed by direct sequencing, and results were confirmed by restriction analysis. An enzyme-linked immunosorbent assay was performed to assess the presence of sulfated keratan sulfate in the serum of MCD patients. Biochemical analysis revealed a MCD type I phenotype in two families and a type II phenotype in another family. Two novel missense mutations and a polymorphism in the coding region of CHST6 gene were identified in patients with MCD type I. In one MCD II family, a homozygous deletion in the upstream region of CHST6 gene was found.

Corneal Dystrophies, Hereditary↗

PubMed1975

Superficial microcystic corneal dystrophy.

Microcystic corneal dystrophy was first described in 1964. Since then, several reports have elaborated on the original findings plus other associated corneal changes. The cause is unknown, but pathological studies have been done in several cases. The corneal changes are subtle and easy to miss on routine examination. This study of 17 patients was undertaken to further evaluate the signs and symptoms of this abnormality and to emphasize techniques of examination. Detailed clinical and laboratory evaluations of tear function were performed. No definite association between tear function and the corneal changes could be determined. In this group of patients, the process seemed benign with minimal symptoms.

Aged↗

PubMed1999

[Honeycomb-shaped corneal dystrophy of Thiel and Behnke. Reclassification and distinction from reis-Bücklers' corneal dystrophy].

BACKGROUND: The honeycomb-shaped dystrophy of Thiel and Behnke has been misunderstood for a long time and has erroneously been classified as Reis-Bücklers' dystrophy. The mistake originates in historical misunderstandings concerning the interpretation of the original Reis-Bücklers' dystrophy which results in a nonuniform nomenclature and a permanent confusion in the evaluation of the superficial stroma dystrophies. This paper intends to clarify the original identity of the honeycomb corneal dystrophy and to distinguish it from the Reis-Bücklers' dystrophy. PATIENTS AND METHODS: We examined seven patients of the original family of Thiel and Behnke. Five of them were newly detected, two of them were reexamined. The histological findings were reevaluated, and the diagnosis was proved by electron microscopic study of corneal specimens. RESULTS: The honeycomb dystrophy is characterized by: (1) dominant inheritance, (2) early manifestation, (3) slow progression, (4) painful erosions during childhood, (5) subepithelial corneal opacities with a clear limbal zone, (6) honeycomb-shaped opacity pattern, (7) recurrence in the graft following keratoplasty, (8) subepithelial fibrous tissue in wave-like accumulation in histologic sections, (9) curly filaments observed by electron microscopy. The clinical symptoms hardly differ from those of Reis-Bücklers' dystrophy. The histological appearance, however, is clearly distinct and curly filaments are the pathognomonic ultrastructural features. CONCLUSIONS: The honeycomb dystrophy represents a definite corneal disease. The terms "Reis-Bücklers' dystrophy" and "ring dystrophy" used for it up to now are wrong and should be eliminated in this context. The only correct term of the disease is honeycomb-shaped dystrophy (Thiel-Behnke) according to its first description and major clinical features. The eponym Reis-Bücklers' dystrophy should only be used for the corneal dystrophy described by Reis and Bücklers.

Adolescent↗

PubMed1996

Characteristic distribution of deposits in recurrent granular corneal dystrophy.

Granular corneal dystrophy can recur after penetrating keratoplasty. In those cases as in the early primary manifestation of the disease, deposits are found predominantly in the superficial corneal layers. At a later stage, stromal deposits can also be seen. We describe an additional particular location of deposits and correlate clinical with histological findings in three corneas from two patients. Deposits were found mainly superficially within the graft and around the edge of the transplant along the scar between host and donor cornea. We suggest that the deposits are of epithelial origin, though their production by stromal cells cannot be excluded. Chemical interactions are discussed as an explanation for the characteristic distribution of the deposits.

Adult↗

PubMedDate not supplied

C-reactive protein in human lattice corneal dystrophy.

Lattice corneal dystrophy (LCD), an autosomal dominantly inherited disease, is characterized by a branching network of subepithelial and stromal amyloid deposits (1). Due to their small size and close association with stromal components and epithelial cells, their chemical composition is as yet undetermined. Amyloid deposits in other types of diseases have been found to contain amyloid P protein (AP). Serum amyloid P component (SAP) and C-reactive protein (CRP) resemble each other in molecular structure and amino acid sequence, but appear to be antigenically distinct (2-6). A humoral mediator most likely stimulates CRP release by hepatocytes and could be related to Interleukin-I synthesis from macrophages (4-6). Rabbit corneal epithelial cells also produced an Interleukin-I-like activity and contain a thymocyte activating cytokine (7). In this study, corneas from normal controls, primary LCD and recurrent LCD were fixed in formalin with lmM CaCl2 and tested with antibodies to CRP, AP and AA (non-immunoamyloid), using the immunoperoxidase technique. The stroma of LCD and normal corneas did not stain with antibodies to AP, AA or CRP. However, we now report that antibodies to CRP show immunospecific binding to the corneal epithelium in primary and recurrent LCD.

C-Reactive Protein↗

PubMed1976

[Primary hereditary band-shaped corneal dystrophy and its association with other hereditary corneal lesions (author's transl)].

The results of examinations of members of a large Tyrolian family tree with primary band-shaped corneal dystrophy and other hereditary corneal leasons are reported. Corneal lesions occurred in 16 family members. In three male members, the primary band-shaped corneal dystrophy is associated either with parenchymal opacification and endo-epithelial dystrophy or epithelial dystrophy or with parenchymal opacification and epithelial dystrophy. In some cases, various corneal dystrophies (parenchymal opacification, endo-epithelial dystrophy, cornea guttata, epithelial dystrophy, band-shaped nasal corneal dystrophy) exist without band-shaped corneal dystrophy. A polyphenic gene is responsible for the manifestation of the various corneal lesions. The occurrence of typical primary band-shaped corneal dystrophy only in male family members can be explained by sex-linked inheritance. Because of some flutuations in the expression, the primary band-shaped corneal dystrophy can only be manifested slightly on the nasal border. The hereditary character of the occurrence of the primary band-shaped corneal dystrophy and of the closely related other corneal dystrophies together with the already in 1974 observed association with keratokonus is stressed. Our observations show the variety of the manifestations of a polyphenic gene in the corneal region.

Adolescent↗

PubMed2004

Lattice corneal dystrophy type III with corneal fistula. A case report.

Lattice corneal dystrophy is a distinct clinical entity characterised by amyloid deposits in the corneal stroma. We report a patient who presented with a corneal fistula in the right eye and thick lattice lines involving the peripheral cornea in both eyes suggestive of type III lattice dystrophy. The association of corneal fistula with lattice corneal dystrophy type III makes this a unique case.

Amyloidosis↗

PubMed1999

A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy.

PURPOSE: Meesmann corneal dystrophy is an autosomal dominant disorder characterized by fragility of the anterior corneal epithelium. We have previously demonstrated that this disease can be caused by mutations in the genes encoding keratins K3 or K12, the major intermediate filament proteins expressed in corneal epithelial cells. Here, we have carried out mutation analysis in a United States kindred presenting with typical features of Meesmann corneal dystrophy. METHODS: Exons 1 and 6 of the K12 gene (KRT12) were polymerase chain reaction amplified from the proband's and control DNA and subjected to direct automated sequencing. RESULTS: A heterozygous missense mutation 1300A-->G was detected in exon 6 of KRT12, predicting amino acid substitution 1426V in the helix termination motif of the K12 polypeptide. The mutation was confirmed in the proband and excluded from 50 normal individuals by restriction enzyme analysis of polymerase chain reaction products. CONCLUSION: We report a novel mutation in a critical molecular overlap region of K12 in a United States family with Meesmann corneal dystrophy. The results confirm that mutations in the corneal keratins (K3 or K12) can underlie Meesmann corneal dystrophy.

Adult↗

PubMed1998

Lattice corneal dystrophy: epithelial macroerosions in clear corneal grafts.

Two sisters, aged 33 and 35, underwent uncomplicated penetrating keratoplasty for lattice corneal dystrophy type 1. Both patients, as well as their younger brother, had experienced frequent recurrent epithelial erosions prior to undergoing corneal grafting. Each sister has subsequently experienced painful, corneal epithelial macroerosions in the corneal graft, in the absence of any signs of recurrence of the lattice corneal dystrophy in the grafted tissue. With treatment each episode of macroerosion has resolved without complication. To our knowledge, this is the first report of epithelial erosions in a corneal graft without clinical evidence of recurrent lattice corneal dystrophy.

Adult↗