1/310. Recurrent macular corneal dystrophy type II 49 years after penetrating keratoplasty.recurrence of macular corneal dystrophy after keratoplasty is rare. We report light microscopic, immunohistochemical, electron microscopic, and serologic findings in a 78-year-old woman who underwent regrafting 49 years following the first penetrating keratoplasty. Examination of the corneal button revealed deposits of glycosaminoglycans in the graft beneath the Bowman layer, throughout the stroma, and in the endothelium with positive staining for antigenic keratan sulfate. By transmission electron microscopy, intracellular and extracellular deposits of a fibrillogranular material were detected in the stroma, descemet membrane, and endothelium. The serum level of antigenic keratan sulfate was normal. Our findings indicate that macular corneal dystrophy type II may show late recurrence after penetrating keratoplasty with intense deposition of antigenic keratan sulfate in all corneal layers.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
2/310. Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA.PURPOSE: To assess the relative distribution in the cornea of amyloid and (beta)ig-h3 gene product in lattice corneal dystrophy type IIIA (LCD-IIIA). methods: Serial sections from the cornea of a patient with LCD-IIIA were subjected to either congo red staining or immunohistochemistry employing an antibody to (beta)ig-h3. Also, genomic dna was isolated from peripheral blood and used as a template for polymerase chain reaction to amplify all exons of (beta)ig-h3. RESULTS: Exon 11 of (beta)ig-h3 was mutated (Pro501Thr). Subepithelial and intrastromal congophilic deposits exhibited a birefringency characteristic of amyloid. These regions of the tissue were also highly immunoreactive with the antibody to the (beta)ig-h3 gene product. CONCLUSION: Amyloid and Pro501Thr-mutated (beta)ig-h3 protein accumulate and colocalize in LCD-IIIA.- - - - - - - - - - ranking = 0.83333333333333keywords = dystrophy (Clic here for more details about this article) |
3/310. In vivo confocal microscopy of a family with Schnyder crystalline corneal dystrophy.OBJECTIVE: To analyze corneal morphology in Schnyder crystalline corneal dystrophy (SCCD) in vivo. DESIGN: Observational case series. PARTICIPANTS: Five eyes of four patients of various belonging to the same family were examined. methods: The eyes were examined using in vivo confocal microscopy (CM). MAIN OUTCOME MEASURES: The corneal morphology including keratocytes and stromal extracellular matrix, as well as basal epithelial/subepithelial nerves is, described. RESULTS: The right eye of a 48-year-old male patient had been treated with anterior keratectomy and the left eye with phototherapeutic keratectomy (PTK). The right eye presented with increased stromal reflectivity owing to accumulation of extracellular matrix and large subepithelial crystalline deposits. Far fewer crystals could be observed in the left eye. The haze, however, was increased, either because of the dystrophy or the excimer laser treatment. The anterior keratocytes appeared irregular, and the subepithelial nerves were undetectable in both eyes. His 78-year-old mother showed more advanced changes with dense crystals, highly fibrotic stroma, and severely damaged corneal innervation. The partly irregular anterior keratocytes of the 9- and 7-year-old children contained intracellular deposits, although the corneas were clinically clear with only subtle subepithelial crystalline formation. Accumulation of similar reflective material was also observed in association with the prominent subepithelial nerves. CONCLUSIONS: In the early stages of SCCD, highly reflective deposits accumulate intracellularly and around anterior keratocytes and along subepithelial nerves. With time, the normal corneal architecture becomes disturbed by large extracellular crystalline deposits and accumulation of highly reflective extracellular matrix resulting in central opacity and disruption of the subepithelial nerve plexus. Furthermore, neural regeneration after keratectomy appears delayed in SCCD.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
4/310. Confocal microscopy in posterior polymorphous corneal dystrophy.PURPOSE: To report the distinguishing characteristics of posterior polymorphous corneal dystrophy (PPMD) using confocal microscopy. MATERIAL AND methods: Two consecutive patients with PPMD were prospectively examined using a white-light tandem scanning confocal microscope with a 24x/0.60 contact objective. RESULTS: At the level of Descement's membrane, roundish hyporeflective images were found in 1 patient. In the other patient, hyporeflective bands were detected. In both patients, patchy hyperreflective areas were identified. CONCLUSION: Confocal microscopy may allow diagnosis of PPMD by demonstrating the alterations in Descement's membrane. This technique is especially valuable in cases of endothelial decompensation, where slit-lamp and specular microscopy may fail to demonstrate changes in Descement's membrane.- - - - - - - - - - ranking = 0.83333333333333keywords = dystrophy (Clic here for more details about this article) |
5/310. Phototherapeutic keratectomy for macular corneal dystrophy.PURPOSE: To report a case of early intervention with phototherapeutic keratectomy for treatment of macular corneal dystrophy. methods: We report a 21-year-old Saudi male with early macular corneal dystrophy, recurrent erosions, and decreased visual acuity, who underwent phototherapeutic keratectomy in the right eye and penetrating keratoplasty in the left eye with more than 2 years of follow-up. RESULTS: Following phototherapeutic keratectomy, uncorrected visual acuity in the right eye improved from 20/80 to 20/30. Following penetrating keratoplasty in the left eye, uncorrected visual acuity deteriorated from 20/80 to 20/120 due to irregular astigmatism; the eye was not amenable to improvement with spectacle correction, and the patient declined contact lens therapy. In the right eye, there has been no anterior recurrence, although some mid- to deep stromal haze, which is not visually significant, has developed. CONCLUSIONS: Early intervention for symptomatic, anterior macular corneal dystrophy with phototherapeutic keratectomy is relatively safe and preferable to observation or penetrating keratoplasty.- - - - - - - - - - ranking = 1.1666666666667keywords = dystrophy (Clic here for more details about this article) |
6/310. Confocal microscopy in lattice corneal dystrophy.BACKGROUND: The purpose of the study was to assess the appearance of lattice corneal dystrophy by means of white-light confocal microscopy. methods: Two consecutive patients with lattice corneal dystrophy were prospectively examined. In vivo white-light tandem-scanning confocal microscopy was performed in the right eye of the first patient. Her left eye had undergone penetrating keratoplasty 4 years earlier. Histologic findings of the corneal button were compared with confocal microscopic findings of the right eye. The other patient was monocular and confocal microscopy was performed only in the non-seeing eye. RESULTS: In both patients, linear and branching structures with changing reflectivity and poorly demarcated margins were visualized in the stroma. The linear structures measured approximately 40-80 microm in width. CONCLUSION: Lattice corneal dystrophy presents characteristic linear images on confocal microscopy and should not be misdiagnosed as fungal hyphae in cases of corneal infection.- - - - - - - - - - ranking = 1.1666877431331keywords = dystrophy, ocular (Clic here for more details about this article) |
7/310. Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophy type I.PURPOSE: To describe a Japanese family with lattice corneal dystrophy type I, which segregates with a novel mutation, Leu518Pro of the beta ig-h3 gene. methods: dna was extracted from leukocytes in four members (three affected and one unaffected) of a Japanese family with lattice corneal dystrophy type I. Exon 12 of the beta ig-h3 gene was amplified and analyzed with a molecular biologic method. Clinical data were also collected. RESULTS: Three generations of this family have been positively diagnosed with lattice corneal dystrophy, indicating autosomal dominant inheritance. We found a heterozygous point mutation that segregates with the disease phenotype. It was a single base-pair transition (CTG to CCG, Leu to Pro). CONCLUSION: Although it is extremely rare compared with the Arg124Cys mutation of the beta ig-h3 gene, Leu518Pro mutation of the beta ig-h3 also causes lattice corneal dystrophy type I.- - - - - - - - - - ranking = 1.3333333333333keywords = dystrophy (Clic here for more details about this article) |
8/310. Terrien's marginal degeneration associated with posterior polymorphous dystrophy.PURPOSE: To document an association between Terrien's marginal degeneration and posterior polymorphous dystrophy. methods: A 23-year-old Saudi man presented with decreased vision, peripheral corneal thinning with vascularization and scarring, and abnormalities of the posterior stroma and Descemet's membrane. RESULTS: Clinical examination, corneal topography, and specular microscopy were consistent with a diagnosis of Terrien's marginal degeneration and posterior polymorphous dystrophy. CONCLUSION: We report the first case, to our knowledge, of the simultaneous occurrence of Terrien's marginal degeneration with posterior polymorphous dystrophy.- - - - - - - - - - ranking = 1.1666666666667keywords = dystrophy (Clic here for more details about this article) |
9/310. 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.- - - - - - - - - - ranking = 1.3333333333333keywords = dystrophy (Clic here for more details about this article) |
10/310. Pseudoexfoliation syndrome in a patient with lattice corneal dystrophy.We report the case of a 70-year-old female who presents lattice corneal dystrophy type I in association with pseudoexfoliation syndrome. This association has never been reported in patients not affected by systemic amyloidosis.- - - - - - - - - - ranking = 0.83333333333333keywords = dystrophy (Clic here for more details about this article) |
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