1/36. 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 = 1keywords = white (Clic here for more details about this article) |
2/36. 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 = 2keywords = white (Clic here for more details about this article) |
3/36. 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 = 16.714969324577keywords = leukocytes (Clic here for more details about this article) |
4/36. Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene.PURPOSE: To report two Japanese patients who were clinically diagnosed with late-onset and sporadic lattice corneal dystrophy (LCD) in whom a Leu527Arg mutation in the TGFBI gene was found. methods: Molecular genetic analysis was performed on dna extracted from peripheral leukocytes from the patients. exons 4, 11, and 12 of the TGFBI gene were amplified by polymerase chain reaction and directly sequenced. Histopathologic study was performed on the corneal tissue obtained during deep lamellar keratoplasty (DLK) from one of the patients. RESULTS: Patient 1 was a 74-year-old man who noticed a visual disturbance at the age of 72 years. Deep stromal opacities with nodular deposits and thick lattice lines were observed only in the right cornea, and DLK was performed. Patient 2 was an 82-year-old man who had LCD (similar in appearance to that in patient 1) in both eyes without visual disturbance. Neither of the patients had a family history of corneal problems and had no episode of corneal erosion. A heterozygous single base-pair transition (CTG to CGG, leucine to arginin) was detected in codon 527 of the TGFBI gene in both patients. No mutation was found in codons 124, 501, 518, 546, or 555. Histopathologically, relatively large amyloid deposits in the deep corneal stroma and ribbons of amyloid deposits just beneath the Bowman's layer were observed in the corneal tissue of patient 1. CONCLUSIONS: Clinical features and pathologic findings of the late-onset form of LCD with an L527R mutation in the TGFBI gene were made clear.- - - - - - - - - - ranking = 16.714969324577keywords = leukocytes (Clic here for more details about this article) |
5/36. Triple anterior chamber after full-thickness lamellar keratoplasty for lattice corneal dystrophy.PURPOSE: To report a patient with lattice corneal dystrophy type I (LCDI) who developed a triple anterior chamber after full-thickness lamellar keratoplasty (LKP). methods: A 46-year-old woman underwent a full-thickness LKP in her right eye for visual disturbances caused by LCDI. Her visual acuity was 20/200 OD before surgery. A complete ophthalmic examination, including slit lamp biomicroscopy and optical coherence tomography (OCT), was performed before and after surgery. Molecular genetic analysis was performed on dna extracted from the peripheral leukocytes. RESULTS: The surgery was performed uneventfully; however, extra spaces posterior to the graft, along with the severe graft edema, were observed to form a triple anterior chamber a few days after surgery. The extra spaces resolved in 3 weeks with no surgical treatment, and her visual acuity improved to 20/20 OD without correction 3 months after surgery. The triple anterior chamber was clearly demonstrated by OCT, but not by slit lamp biomicroscopy. A heterozygous single base-pair transition (CGC to TGC, arginin to cysteine) was detected in codon 124 of the TGFBIgene in the patient. CONCLUSION: The separation of the graft and the host's deep corneal tissue and a Descemet's membrane detachment in the host's cornea caused the triple anterior chamber. The Descemet's membrane detachment demonstrated the weak adhesion of the stroma and the Descemet's membrane, probably resulting from a dysfunction of the TGFBI protein caused by the mutation of the TGFBIgene. OCT is useful for the objective documentation of the posterior corneal region even with severe corneal edema.- - - - - - - - - - ranking = 16.714969324577keywords = leukocytes (Clic here for more details about this article) |
6/36. A novel mutation of M1S1 gene found in a Vietnamese patient with gelatinous droplike corneal dystrophy.To identify the genetic defect in the M1S1 gene responsible for gelatinous droplike corneal dystrophy (GDLD) in a Vietnamese family.Experimental study.blood samples were collected from a patient and the unaffected members of a GDLD-affected family. Fifty normal unrelated subjects of Vietnamese origin were used as controls. Genomic dna was extracted from blood leukocytes. dna analysis of the M1S1 gene was performed using polymerase chain reaction and direct sequencing.Sequencing of the M1S1 gene revealed a deletion of a 12-base-pair (bp) fragment from nucleotide positions 772 to 783 [772 to 783del(ATCTATTACCTG)], resulting in a loss of four amino acids at codons 258 to 261 (L258-liter261del). Yet, an insertion of nucleotide T in place of the missing sequence (772insT) was found. This combined mutation was homozygous in the GDLD-affected patient and heterozygous in his unaffected son and younger sister. Such genetic alteration was excluded in the control population.This is the first report of a mutational analysis performed in a Vietnamese patient with GDLD. In this family, the novel 772 to 783del(ATCTATTACCTG) 772insT mutation on the M1S1 gene was well cosegregated with the phenotype and thus expected to cause GDLD. Although the M1S1 gene was responsible for GDLD in Vietnamese patients, the mutation found here is completely different from that previously reported in Japanese patients, where GDLD is most frequently seen.- - - - - - - - - - ranking = 16.714969324577keywords = leukocytes (Clic here for more details about this article) |
7/36. A novel mutation of the TGFBI gene found in a Vietnamese family with atypical granular corneal dystrophy.BACKGROUND: Mutation of the human transforming growth factor beta-induced (TGFBI) gene causes granular corneal dystrophy (GCD) in various ethnic groups. In this report, we identify the genetic defect on the TGFBI gene in a Vietnamese family with atypical GCD .CASES: The patient and her relatives were examined clinically. Genomic dna was extracted from blood leukocytes. Fifty normal Vietnamese were used as controls. Analysis of the TGFBI gene was performed using polymerase chain reaction and direct sequencing. OBSERVATIONS: The 42-year-old proband clinically showed multiple white dot-like opacities scattered in the anterior and mid-stroma of the central cornea. Unlike GCD, these deposits were smaller, localized deeper and less severe. dna analysis revealed a nucleotide transversion at codon 123 (GAC --> CAC), causing Asp --> His substitution (D123H). This mutation was also detected in 3 out of 5 unaffected family members, but was absent in the 50 normal controls. CONCLUSIONS: The novel D123H mutation of the TGFBI gene was not co-segregated with GCD in the family studied, and did not exist in the control population. It probably was a disease-causing mutation, thus expected to cause a novel variant of GCD in the proband. The detection of the D123H mutation in three unaffected family members indicates that it has low penetrance for GCD.- - - - - - - - - - ranking = 17.714969324577keywords = leukocytes, white (Clic here for more details about this article) |
8/36. Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations.PURPOSE: To report the clinical and genetic findings of Vietnamese families affected with macular corneal dystrophy (MCD) in 2 generations. methods: Two families, including 7 patients and 3 unaffected members, were examined clinically. blood samples were collected. Fifty normal Vietnamese individuals were used as controls. Genomic dna was extracted from leukocytes. Analysis of the carbohydrate sulfotransferase (CHST6) gene was performed using polymerase chain reaction and direct sequencing. RESULTS: The typical form of MCD was recognized in family B, in which sequencing of CHST6 gene revealed an nt 1067-1068ins(GGCCGTG) mutation (frameshift after 125V) homozygously in MCD patients and heterozygously in the unaffected members. family N also showed clinical features of MCD, moderate in the mother but severe in the affected son. Sequencing revealed a single heterozygous Arg211Gln in the mother, compound heterozygous Arg211Gln Gln82Stop in the affected son, and heterozygous Arg211Gln mutation in the unaffected members. The identified mutations in these pedigrees were excluded from normal controls. CONCLUSIONS: The novel frameshift and compound heterozygous mutations might be responsible for MCD in the families studied. The phenotypic variation between affected parents and offspring was unclear. In family N, severe MCD phenotype seen in the affected son may be due the fact that he had an early stop codon mutation (Gln82Stop).- - - - - - - - - - ranking = 16.714969324577keywords = leukocytes (Clic here for more details about this article) |
9/36. Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy.PURPOSE: To report the genetic findings in a Chinese patient diagnosed with gelatinous droplike corneal dystrophy (GDLD). DESIGN: Case report and experimental study. methods: Molecular genetic analysis was performed on the dna extracted from peripheral leukocytes from a Chinese patient with GDLD and his unaffected parents. Fifty healthy, unrelated, Chinese participants were used as control subjects. The M1S1 gene was amplified by polymerase chain reaction and directly sequenced. RESULTS: The patient was clinically diagnosed with GDLD. Direct sequencing of the M1S1 gene revealed heterozygous changes in both alleles, a novel Y184C mutation on one allele and a Q118X mutation on the other that was reported as a founder mutation in the Japanese population. The patient's unaffected parents showed only the heterozygous Q118X or Y184C mutation. The mutation was not detected in the 50 unaffected subjects. CONCLUSIONS: This is the first genetic analysis of a Chinese patient with GDLD. Because the compound heterozygote mutations Q118X and Y184C cosegregated with the phenotype, they are likely the cause of GDLD in this patient.- - - - - - - - - - ranking = 16.714969324577keywords = leukocytes (Clic here for more details about this article) |
10/36. Evaluation of granular corneal dystrophy with optical coherent tomography.OBJECTIVE: To determine the intrastromal layer of corneal deposits in granular corneal dystrophy (GCD). DESIGN: Investigative case report. methods: A 32-year-old woman with bilateral decreased vision because of corneal deposits was examined with cross-sectional scans using optical coherence tomography (OCT). RESULTS: visual acuity was 20/100 OU. Multiple confluent gray-white patches with an irregular shape were seen in the corneal stroma, leading to a diffuse opacification. OCT disclosed multiple hyperreflective dots in the anterior and deeper stromal layers. CONCLUSION: When severe corneal opacities obscure the clinical differentiation between anterior and deep infiltrates, OCT may determine the layers of the accumulation and select an appropriate surgical procedure.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
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