In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy.

Purpose: To report genetic mutational analysis and in vivo histology of Meesmann corneal dystrophy.

Study Design: Prospective, case control study.

Methods: Six patients from three independent families with clinically diagnosed Meesmann corneal dystrophy were enrolled in this study.

A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis.

Purpose: To investigate mutations of causal genes in two affected male siblings of a Japanese family with suspected Leber congenital amaurosis (LCA) and to characterize the related clinical features.

Methods: After obtaining informed consent, genomic DNA was extracted from peripheral blood of the proband and his family members. Mutation screening was initially performed with microarrays.

Familial cases of Norrie disease detected by copy number analysis.

Purpose: Norrie disease (ND, MIM#310600) is an X-linked disorder characterized by severe vitreoretinal dysplasia at birth. We report the results of causative NDP gene analysis in three male siblings with Norrie disease and describe the associated phenotypes.

Methods: Three brothers with suspected Norrie disease and their mother presented for clinical examination.

OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy.

Purpose: To report three types of heterozygous mutations in the OPA1 gene in five patients from three families with autosomal dominant optic atrophy (ADOA, MIM#165500).

Methods: DNA was extracted from the leukocytes of the peripheral blood. For mtDNA, mutations were examined at positions 11778, 3460 and 14484.

A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa.

Purpose: To report a novel, identical nonsense mutation in the rhodopsin (RHO) gene in two Indonesian families with autosomal recessive retinitis pigmentosa (arRP).

Methods: Mutation screening for the RHO gene was performed in 38 unrelated patients with retinitis pigmentosa (RP) by direct sequencing. Clinical features were also characterized, through complete ophthalmologic examination.

Distribution of goblet cells and MUC5AC mRNA in the canine nictitating membrane.

This study evaluated the distribution of goblet cells and the expression of MUC5AC mRNA in the canine nictitating membrane. The distribution of goblet cells in the nictitating membrane and temporal bulbar conjunctiva of beagle dogs was examined by histochemical analysis of impression cytology specimens and frozen sections. MUC5AC mRNA was detected by the reverse transcription polymerase chain reaction (RT-PCR).

Mutation analysis of CHST6 gene in Chinese patients with macular corneal dystrophy.

Purpose: To examine the carbohydrate sulfotransferase 6 (CHST6) gene in Chinese patients with macular corneal dystrophy (MCD).

Methods: Nineteen unrelated Chinese families with MCD, including 24 patients and 3 unaffected relatives, were examined. Genomic DNA was extracted from peripheral blood leukocytes.

A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation.

Purpose: To report a case of oculodentodigital dysplasia syndrome (ODDD) with a heterozygous mutation in GJA1 (connexin 43) gene.

Methods: A 9-year-old girl visited our hospital complaining of visual disturbances. The patient had microphthalmia, a small nose with hypoplastic alae nasi, and syndactyly.

In vivo laser confocal microscopy findings and mutational analysis for Schnyder's crystalline corneal dystrophy.

Objective: To identify any mutation of the UbiA prenyltransferase domain-containing protein 1 (UBIAD1) gene in Japanese patients with Schnyder's crystalline corneal dystrophy (SCCD) and to investigate in vivo microstructural phenotype and genotype correlations using laser scanning confocal microscopy (Heidelberg Retina Tomograph 2 Rostock Cornea Module; Heidelberg Engineering GmbH, Dossenheim, Germany).

Design: Small, comparative case series.

Participants: Three patients from 3 pedigrees (3 males) with clinically diagnosed SCCD and their relatives (2 males, 1 female) participated in this study.

A novel mutation (967-970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings.

Purpose: To investigate the choroideremia (CHM) gene of one affected male and one obligate carrier in a Japanese family with choroideremia, and to characterize the related clinical features.

Methods: We examined one affected man and one carrier woman from a Japanese family. Genomic DNA was extracted from leukocytes of peripheral blood collected from the affected man and his daughter, who is an obligate carrier of choroideremia.

A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy.

Purpose: To report a novel mutation in the keratin 12 gene (KRT12) found in a Japanese family in association with Meesmann corneal dystrophy (MECD).

Methods: After informed consent was obtained, genomic DNA was extracted from the leukocytes of the peripheral blood of the proband, her affected father, normal mother, and 50 normal unrelated volunteers. Exons 1-8 of the KRT12 gene were amplified by polymerase chain reaction and directly sequenced.

[Ocular pulse amplitude in patients with open-angle glaucoma, normal-tension glaucoma, and ocular hypertensionby dynamic observing tonometry].

Purpose: The aim of this study was to compare the ocular pulse amplitude (OPA) in patients with different types of glaucoma, and also to evaluate the usefulness of OPA for the elucidation of normal-tension glaucoma (NTG). OPA is thought to reflect choroidal circulation.

Subjects: Sixty-six patients with normal-tension glaucoma (NTG), 52 patients with primary open angle glaucoma (POAG), 42 with ocular hypertension (OH) and 68 normal controls (NC) were enrolled in this study.

Expression and distribution of junctional adhesion molecule-1 in the human cornea.

Purpose: To investigate the expression and distribution of junctional adhesion molecule 1 (JAM-1) in human corneal tissue and cells.

Methods: Reverse transcriptase-polymerase chain reaction was used to detect the expression of JAM-1, ZO-1, and occludin mRNAs in corneal cells, while the presence of JAM-1 protein was analyzed by flow cytometry (FACS). Double immunofluorescence staining was used to determine the tissue distribution of JAM-1 and occludin in human corneas.

In vivo laser confocal microscopic findings of corneal stromal dystrophies.

Objective: To investigate in vivo laser confocal microscopic findings of genetically mapped corneal stromal dystrophies and their relationship to histopathologic findings.

Methods: Seven patients with Avellino corneal dystrophy, 2 patients with lattice corneal dystrophy, and 2 patients with macular corneal dystrophy were examined genetically and using slitlamp biomicroscopy and in vivo laser confocal microscopy. Corneal specimens obtained after surgery in selected patients were histopathologically studied.

A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene.

Purpose: To characterize the molecular defect in the TGFBI gene in a Chinese family affected with an atypical lattice corneal dystrophy.

Design: Case report and experimental study.

Methods: Molecular genetic analysis was performed on the DNA extracted from peripheral leucocytes from a Chinese family with atypical lattice corneal dystrophy.

[Clinical phenotype of a Japanese family with primary open-angle glaucoma caused by a Ala 363 Thr mutation in the MYOC gene].

Background: Myocilin is a gene that causes primary open-angle glaucoma (POAG). We report a family whose members had an Ala 363 Thr mutation in the myocilin gene. We present the clinical phenotype of this family.

[Analysis of gene mutation in Chinese patients with Reis-Bücklers corneal dystrophy].

Objective: To identify the mutation of the TGFBI gene in Chinese patients with Reis-Bücklers corneal dystrophy, and to study the relationship between the gene mutation and the clinical appearance.

Methods: Ten patients and 2 unaffected family members from 2 unrelated families with corneal dystrophy were studied. Molecular genetic analysis was performed on DNA extracted from peripheral leucocytes, and exons 4 and 12 of the TGFBI gene were amplified by polymerase chain reaction for direct sequencing.

Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I.

Purpose: To report a novel V505D mutation of the human transforming growth factor beta-induced (TGFBI) gene found in a Chinese family with lattice corneal dystrophy, type I (LCDI).

Methods: Genomic DNA was extracted from peripheral leukocytes from eight affected and four unaffected members of a Chinese family with LCDI. Exons of the TGFBI gene were amplified by polymerase chain reaction and directly sequenced.

[Case of late onset and isolated lattice corneal dystrophy with Asn544Ser (N544S) mutation of transforming growth factor beta-induced (TGFBI, BIGH3) gene].

Purpose: To report a case of lattice corneal dystrophy (LCD) with Asn544Ser (N544S) mutation of the transforming growth factor beta-induced (TGFBI) gene.

Case: A 68-year-old male patient with late-onset, sporadic LCD without corneal erosion. Amyloid deposits showing dot and lattice lines were seen in the mid to deep stroma.

Tear chymase in vernal keratoconjunctivitis.

Purpose: To determine the levels of mast cell chymase and tryptase activity in the tears of patients with vernal keratoconjunctivitis (VKC).

Methods: Subjects were 38 VKC patients and 18 healthy controls whose chymase and tryptase activity in tears was measured by enzyme assay. VKC severity was quantified based on the following clinical signs: papillary hypertrophy, conjunctival hyperemia, edema, punctate keratitis, Trantas dots, and mucus production.

Mutations in the membrane component, chromosome 1, surface marker 1 (M1S1) gene in gelatinous drop-like corneal dystrophy.

Purpose: To report mutations in the membrane component, chromosome 1, surface marker 1 ( M1S1) gene in two members of the same family who showed symptoms of gelatinous drop-like corneal dystrophy (GDLD).

Methods: DNA was extracted from leukocytes of peripheral blood of the two affected members of the family and from controls, and the coding region of M1S1 was amplified by polymerase chain reaction (PCR). The PCR products were analyzed by direct sequencing.

Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy.

Purpose: To determine whether Japanese patients with Fuchs' endothelial corneal dystrophy (FECD) and posterior polymorphous dystrophy (PPMD) carry mutations in the COL8A2 gene, and to investigate the possible pathogenicity of the COL8A2 gene in these corneal dystrophies.

Methods: DNA analysis of the COL8A2 gene was performed in 15 unrelated Japanese patients with FECD, and 5 patients with PPMD using polymerase chain reaction and direct sequencing. Mutation screenings were also performed in 36 unrelated normal volunteers as controls, as well as slit-lamp and specular microscopy.

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.