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Analysis of COL8A2 Gene Mutation in Japanese Patients with Fuchs’ Endothelial Dystrophy and Posterior Polymorphous Dystrophy
PurposeTo determine whether Japanese patients with Fuchs’ endothelial corneal dystrophy (FECD) and posterior polymorphous dystrophy (PPMD) carry mutations in the COL8A2 gene, and to investigate theExpand
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A new L527R mutation of the βIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities
Abstract Mutations in the βIGH3 gene on chromosome 5q31 cause five distinct autosomal dominant corneal dystrophies: granular Groenouw type I, Reis-Bücklers’, lattice type I and IIIA, and AvellinoExpand
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Studies on the mechanism of early onset macular degeneration in cynomolgus monkeys. II. Suppression of metallothionein synthesis in the retina in oxidative stress.
Initial investigations done in this laboratory detected increased albumin and decreased glyceraldehyde 3-phosphate dehydrogenase concentrations in the retina of an animal model manifesting earlyExpand
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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 patientsExpand
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[Prevalence of keratoconus patients in Japan].
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Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA.
The G to A transition of nucleotide position (nt) 11778 of mitochondrial DNA (mtDNA) has been frequently observed in Japanese Leber's hereditary optic neuropathy (LHON) cases. Therefore, we performedExpand
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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 investigateExpand
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Genetic analysis of microphthalmos
Data of 1313 microphthalmos probands and 5325 sibs in 1290 families based on a nation-wide genetic survey of the visually handicapped in 1959 and 1964 in Japan, were analyzed. The probability ofExpand
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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 twoExpand
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Multiplex polymerase chain reaction for detection of herpes simplex virus type 1, type 2, cytomegalovirus, and varicella-zoster virus in ocular viral infections.
PURPOSE To detect simultaneously herpes simplex virus type 1 (HSV-1), type 2 (HSV-2), cytomegalovirus (CMV), and varicella-zoster virus (VZV) in ocular specimens suspected of indicating viralExpand
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