Y Mashima

Summary

Affiliation: Keio University
Country: Japan

Publications

  1. ncbi Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Invest Ophthalmol Vis Sci 42:2211-6. 2001
  2. ncbi Phenotype associated with an R120X nonsense mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Ophthalmic Genet 22:43-7. 2001
  3. ncbi Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Am J Ophthalmol 130:516-7. 2000
  4. ncbi Human and mouse ISLR (immunoglobulin superfamily containing leucine-rich repeat) genes: genomic structure and tissue expression
    A Nagasawa
    Department of Molecular Biology, Department of Ophthalmology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo, 160 8582, Japan
    Genomics 61:37-43. 1999
  5. ncbi Novel mutation in RP2 gene in two brothers with X-linked retinitis pigmentosa and mtDNA mutation of leber hereditary optic neuropathy who showed marked differences in clinical severity
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Am J Ophthalmol 130:357-9. 2000
  6. ncbi Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA
    Y Hotta
    Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
    Jpn J Ophthalmol 39:96-108. 1995
  7. ncbi A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Arch Ophthalmol 117:90-3. 1999
  8. ncbi Quantitative determination of heteroplasmy in Leber's hereditary optic neuropathy by single-strand conformation polymorphism
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Invest Ophthalmol Vis Sci 36:1714-20. 1995
  9. ncbi High incidence of visual recovery among four Japanese patients with Leber's hereditary optic neuropathy with the 14484 mutation
    K Yamada
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    J Neuroophthalmol 17:103-7. 1997
  10. ncbi Clinical characteristics of 14 japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation
    K Shinoda
    Department of Ophthalmology, Keio University School of Medicine, Shinjuku ku, Tokyo, Japan
    Ophthalmic Genet 21:171-80. 2000

Collaborators

Detail Information

Publications56

  1. ncbi Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Invest Ophthalmol Vis Sci 42:2211-6. 2001
    ..To investigate CYP1B1 gene mutations in Japanese patients with primary congenital glaucoma (PCG)...
  2. ncbi Phenotype associated with an R120X nonsense mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Ophthalmic Genet 22:43-7. 2001
    ..The ocular phenotype of this family with R120X was considered severe; reported phenotypes associated with this mutation have not been uniform...
  3. ncbi Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Am J Ophthalmol 130:516-7. 2000
    ..To evaluate the incidence of BIGH3 gene mutations in 164 unrelated Japanese patients with corneal stromal dystrophies with an autosomal dominant trait...
  4. ncbi Human and mouse ISLR (immunoglobulin superfamily containing leucine-rich repeat) genes: genomic structure and tissue expression
    A Nagasawa
    Department of Molecular Biology, Department of Ophthalmology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo, 160 8582, Japan
    Genomics 61:37-43. 1999
    ..The Islr gene was expressed in various mouse tissues, including retina, in which Islr mRNA was detected in the ganglion cell layer, the inner nuclear layer, and the inner segment of the photoreceptor...
  5. ncbi Novel mutation in RP2 gene in two brothers with X-linked retinitis pigmentosa and mtDNA mutation of leber hereditary optic neuropathy who showed marked differences in clinical severity
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Am J Ophthalmol 130:357-9. 2000
    ..To report the identification of a novel mutation of the RP2 gene in two Japanese brothers with X-linked retinitis pigmentosa of a differing clinical severity. The mother was a carrier of both retinitis pigmentosa and optic atrophy...
  6. ncbi Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA
    Y Hotta
    Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
    Jpn J Ophthalmol 39:96-108. 1995
    ..The present survey indicates that the male-to-female ratio is higher than the previous Japanese LHON statistics and that the visual outcome is better than in American LHON cases with the 11778 mutation...
  7. ncbi A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Arch Ophthalmol 117:90-3. 1999
    ..To identify the mutation in a human transforming growth factor beta-induced gene (BIGH3) in a Japanese family with a severe form of granular corneal dystrophy of early onset associated with recurrent corneal erosions...
  8. ncbi Quantitative determination of heteroplasmy in Leber's hereditary optic neuropathy by single-strand conformation polymorphism
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Invest Ophthalmol Vis Sci 36:1714-20. 1995
    ..Individuals with heteroplasmy with less than 60% of mutant mtDNA in circulating leukocytes are probably at lesser risk for developing optic atrophy...
  9. ncbi High incidence of visual recovery among four Japanese patients with Leber's hereditary optic neuropathy with the 14484 mutation
    K Yamada
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    J Neuroophthalmol 17:103-7. 1997
    ..The patient who did not was a heavy consumer of alcohol and tobacco. These findings indicate that Japanese patients with the 14484 mutation have a visual prognosis similar to that of Caucasians with this mutation...
  10. ncbi Clinical characteristics of 14 japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation
    K Shinoda
    Department of Ophthalmology, Keio University School of Medicine, Shinjuku ku, Tokyo, Japan
    Ophthalmic Genet 21:171-80. 2000
    ..The present study shows a heterogeneity of mutations in the XLRS1 gene and phenotypic variations in 14 Japanese patients with xlRS...
  11. ncbi Cloning of the cDNA for a new member of the immunoglobulin superfamily (ISLR) containing leucine-rich repeat (LRR)
    A Nagasawa
    Department of Molecular Biology, Keio University School of Medicine, Tokyo, Japan
    Genomics 44:273-9. 1997
    ..The ISLR gene was mapped on human chromosome 15q23-q24 by fluorescence in situ hybridization...
  12. ncbi A significant role of stromal fibroblasts in rapidly progressive dry eye in patients with chronic GVHD
    Y Ogawa
    Departments of Ophthalmology and. Diagnostic Pathology, Institute for Advanced Medical Research, Tokyo, Japan
    Invest Ophthalmol Vis Sci 42:111-9. 2001
    ..In addition, it is likely that stromal fibroblasts are actively involved in the pathogenic process of chronic GVHD in the lacrimal gland by producing excessive extracellular matrix components...
  13. ncbi Successful treatment of dry eye in two patients with chronic graft-versus-host disease with systemic administration of FK506 and corticosteroids
    Y Ogawa
    Department of Ophthalmology, Division of Hematology, The Department of Medicine, Institute for Advanced Medical Research, Keio University School of Medicine, Tokyo, Japan
    Cornea 20:430-4. 2001
    ..We present two cases of severe dry eye in patients with chronic graft-versus-host disease (CGVHD) after hematopoietic stem cell transplantation (SCT) who were successfully treated by the systemic administration of FK506 and corticosteroids...
  14. ncbi Mouse myocilin (Myoc) gene expression in ocular tissues
    H Takahashi
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Biochem Biophys Res Commun 248:104-9. 1998
    ..These findings suggest that myocilin mutation could affect the capacity of aqueous outflow and cause elevation of the intraocular pressure which is involved in the pathogenesis of glaucoma...
  15. ncbi Genomic organization of the human myocilin gene (MYOC) responsible for primary open angle glaucoma (GLC1A)
    R Kubota
    Department of Molecular Biology, Keio University School of Medicine, Tokyo, Japan
    Biochem Biophys Res Commun 242:396-400. 1998
    ..These results should aid in further detection of the MYOC/TIGR gene mutation and in depth understanding of the tissue-specific MYOC gene regulation...
  16. ncbi Novel mutations in the myocilin gene in Japanese glaucoma patients
    R Kubota
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Hum Mutat 16:270. 2000
    ..Thus, myocilin mutations were found at the rate of 4/140 (2.9%) probands, similar to previous reports with other ethnic populations...
  17. ncbi A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping
    R Kubota
    Department of Molecular Biology, Keio University School of Medicine, Tokyo, Japan
    Genomics 41:360-9. 1997
    ..The myocilin gene (MYOC) was mapped to human chromosome 1q23-q24 by fluorescence in situ hybridization...
  18. ncbi Human retina-specific amine oxidase: genomic structure of the gene (AOC2), alternatively spliced variant, and mRNA expression in retina
    Y Imamura
    Department of Molecular Biology, Keio University School of Medicine, Tokyo, Japan
    Genomics 51:293-8. 1998
    ..We designed four sets of PCR primers to amplify four exons, which will be valuable for analyzing mutations in patients with ocular diseases affecting the retinal ganglion cell layer...
  19. ncbi High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Hum Genet 92:101-2. 1993
    ..4%) of the 17 families. The prevalence of this mutation appears to be much higher in Japanese patients with LHON than in patients of other ethnic origins, such as Finnish, Dutch, German, and English families...
  20. ncbi Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Curr Eye Res 17:403-8. 1998
    ..To investigate the incidence and clinical significance of primary or proposed secondary mitochondrial DNA (mtDNA) mutations in Japanese patients with Leber's hereditary optic neuropathy (LHON)...
  21. ncbi A family with Leber's hereditary optic neuropathy with mitochondrial DNA heteroplasmy related to disease expression
    A Tanaka
    Department of Ophthalmology, Tokyo Medical and Dental University, Japan
    J Neuroophthalmol 18:81-3. 1998
    ..A recovery episode of visual acuity was noted in the history of three of the four patients. Heteroplasmy is likely to be a factor in the expression of disease in this family...
  22. ncbi A novel homozygous Ile535Asn mutation in the rod cGMP phosphodiesterase beta-subunit gene in two brothers of a Japanese family with autosomal recessive retinitis pigmentosa
    M Saga
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Curr Eye Res 17:332-5. 1998
    ..We here attempted to identify a novel mutation in the PDEB gene in Japanese arRP patients...
  23. ncbi [Molecular genetic analysis of Leber's hereditary optic neuropathy with the 3460 mutation in Japanese pedigrees]
    Y Hiida
    Department of Ophthalmology, School of Medicine Keio University, Japan
    Nippon Ganka Gakkai Zasshi 99:728-34. 1995
    ..2 OD and 0.7 OS about two years and half after the onset. The difference in final visual acuity between these two patients may reflect the degree of reduction in mitochondrial energy production...
  24. ncbi Lack of differences among mitochondrial DNA in family members with Leber's hereditary optic neuropathy and differing visual outcomes
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    J Neuroophthalmol 15:15-9. 1995
    ..The variations in clinical outcome thus could not be explained by synergistically interacting secondary mutations in mtDNA. Environmental factors may play an etiologic role in the development of optic atrophy...
  25. ncbi Risk of false-positive molecular genetic diagnosis of Leber's hereditary optic neuropathy
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Am J Ophthalmol 119:245-6. 1995
    ..RESULTS/CONCLUSIONS: The ratio of false-positive to true-positive results was 1:36. Mitochondrial DNA polymorphism at nucleotide 11779 reflects a false-positive genetic error...
  26. ncbi Mitochondrial DNA analysis of Leber's hereditary optic neuropathy
    Y Hiida
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Jpn J Ophthalmol 35:102-6. 1991
    ..This result demonstrates the clinical and diagnostic importance of mtDNA analysis, especially with possible cases of LHON, and suggests that an alternative mutation associated with LHON is also present in Japanese patients...
  27. ncbi Rapid detection of M1S1 mutations by the protein truncation test
    M Tsujikawa
    Department of Ophthalmology, Osaka University Medical School, Suita, Japan
    Invest Ophthalmol Vis Sci 41:2466-8. 2000
    ..To determine a method of rapid detection of M1S1 gene mutations in patients with gelatinous droplike corneal dystrophy...
  28. pmc Phenotype of cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma
    Y Ohtake
    Department of Ophthalmology, Keio University School of Medicine, Shinjuku ku, Tokyo 160 8582, Japan
    Br J Ophthalmol 87:302-4. 2003
    ..To investigate the phenotypes associated with cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma (PCG)...
  29. ncbi On- and off-responses of the photopic electroretinograms in X-linked juvenile retinoschisis
    K Shinoda
    Department of Ophthalmology, Keio University School of Medicine, Shinjuku ku, Tokyo, Japan
    Am J Ophthalmol 131:489-94. 2001
    ..To examine the physiologic condition of the middle retinal layer of patients with X-linked juvenile retinoschisis (xlRS) by studying the on- and off-responses of the photopic electroretinograms (ERGs)...
  30. ncbi Autologous serum eye drops for the treatment of severe dry eye in patients with chronic graft-versus-host disease
    Y Ogawa
    Department of Ophthalmology, School of Medicine, Keio University, Tokyo, Japan
    Bone Marrow Transplant 31:579-83. 2003
    ....
  31. ncbi [DNA diagnosis of Leber's hereditary optic neuropathy]
    Y Mashima
    Department of Ophthalmology, School of Medicine, Keio University, Tokyo, Japan
    Nippon Ganka Gakkai Zasshi 94:683-7. 1990
    ..SfaNI digested the DNA fragments of normal Japanese subjects, but did not digest those of the patient or the carrier, The mutation within the SfaNI site is also associated with Japanese suffering from this disorder...
  32. ncbi Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Hum Mutat 13:338. 1999
    ..The rest of the 7 mutations were clustered between exons 4 and 6. This region of the protein is homologous to the proteins implicated in cell-cell adhesion...
  33. ncbi Rapid and efficient molecular analysis of gyrate atrophy using denaturing gradient gel electrophoresis
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Invest Ophthalmol Vis Sci 35:1065-70. 1994
    ..Because mutations in the OAT gene show a high degree of molecular heterogeneity in GA, the authors set out to determine the mutations by rapid and efficient methods...
  34. ncbi Microcirculation in the macular area of eyes with an idiopathic epiretinal membrane
    K Shinoda
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Graefes Arch Clin Exp Ophthalmol 239:941-5. 2001
    ..70, 0.52, 0.75, 0.83, and 0.98, respectively. CONCLUSIONS: Eyes with an ERM showed abnormal hemodynamics in the macula that gradually improved after vitrectomy to a status comparable with the MBF of the normal fellow eye...
  35. ncbi [Objective evaluation of visual field loss in a patient with branch retinal artery occlusion and brain infarction]
    K Yamada
    Department of Ophthalmology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan
    Nippon Ganka Gakkai Zasshi 105:257-64. 2001
    ..CONCLUSIONS: m-ERG and m-VEP are useful To differentiate retinal lesions from brain lesions in visual field loss...
  36. ncbi Dissociation of damage to spatial and luminance channels in early Leber's hereditary optic neuropathy manifested by the visual evoked potential
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Eye (Lond) 11:707-12. 1997
    ..Luminance-related fibres may be less affected than are the spatial-vision-related fibres in patients with early LHON...
  37. pmc Orbital high resolution magnetic resonance imaging with fast spin echo in the acute stage of Leber's hereditary optic neuropathy
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    J Neurol Neurosurg Psychiatry 64:124-7. 1998
    ..The present results support the hypothesis that a primary lesion in LHON may be intraocular...
  38. ncbi Severe juvenile retinoschisis associated with a 33-bps deletion in XLRS1 gene
    K Shinoda
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Ophthalmic Genet 20:57-61. 1999
    ..This patient with a severe form of retinoschisis was found to harbor the deletion of 33 base pairs, including the boundary region of exon 3 and intron 3 in the XLRS1 gene...
  39. ncbi High incidence of pre-excitation syndrome in Japanese families with Leber's hereditary optic neuropathy
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Clin Genet 50:535-7. 1996
    ....
  40. ncbi Electrolytic removal of recurrence of granular corneal dystrophy
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Eye (Lond) 17:975-81. 2003
    ..To report the efficacy of corneal electrolysis for the treatment of recurrent corneal opacities at the subepithelial region or at the host-graft interface of the stroma in granular corneal dystrophy (GCD)...
  41. ncbi [Two cases of digitalis toxicity with reversible and severe decrease of visual acuity]
    N Nagai
    Department of Ophthalmology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan
    Nippon Ganka Gakkai Zasshi 105:24-30. 2001
    ..It is necessary consiler toxicity when severe visual dysfunction is observed in patients with digitalis therapy...
  42. ncbi Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy?
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    J Neuroophthalmol 20:166-70. 2000
    ..These agents may stimulate the formation of ATP...
  43. pmc Scanning laser Doppler flowmeter study of retinal blood flow in macular area of healthy volunteers
    I Kimura
    Department of Ophthalmology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan
    Br J Ophthalmol 87:1469-73. 2003
    ..To compare the interocular and intraocular differences of capillary perfusion, and the intraocular regional differences of retinal blood flow in the macular area of healthy volunteers...
  44. ncbi Transforming growth factor-beta 1 promotes contraction of collagen gel by bovine corneal fibroblasts through differentiation of myofibroblasts
    H Kurosaka
    Department of Ophthalmology, Keio University, School of Medicine, Tokyo, Japan
    Invest Ophthalmol Vis Sci 39:699-704. 1998
    ..To determine whether the ability of transforming growth factor-beta (TGF-beta) to influence the contractile activity of corneal fibroblasts depends on their differentiation into myofibroblasts...
  45. ncbi The effect of selective cyclooxygenase-2 inhibitor on corneal angiogenesis in the rat
    M Yamada
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Curr Eye Res 19:300-4. 1999
    ..This study was undertaken to determine the role of COX-2 in the corneal angiogenic response...
  46. ncbi [Autosomal dominant inherited corneal dystrophies associated with TGFBI mutation]
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan
    Nippon Ganka Gakkai Zasshi 105:659-72. 2001
    ..The classification of these diseases according to genetic pathogenesis may be more appropriate than the use of clinical or histological findings...
  47. ncbi Fat adherence syndrome after retinal surgery treated with amniotic membrane transplantation
    M Yamada
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Am J Ophthalmol 132:280-2. 2001
    ..We present favorable results with amniotic membrane transplantation in a patient who developed fat adherence syndrome after retinal surgery...
  48. ncbi Decreased substance P concentrations in tears from patients with corneal hypesthesia
    M Yamada
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Am J Ophthalmol 129:671-2. 2000
    ..To determine whether substance P concentrations in tears reflect corneal hypesthesia...
  49. ncbi Fluorophotometric measurement of the buffering action of human tears in vivo
    M Yamada
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Curr Eye Res 17:1005-9. 1998
    ..The buffering action of human tears is thought to be important to keep its pH constant. We measured the change in pH in the precorneal tear film in vivo when the acidic solution is challenged, using a fluorophotometric technique...
  50. ncbi Clinical application of the multifocal VEPs
    Y Betsuin
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Curr Eye Res 22:54-63. 2001
    ..CONCLUSIONS: Multifocal VEPs summed within four quadrants can be used for an objective evaluation of the visual fields. The testing can be obtained in 4 min with no pain or discomfort to the patient...
  51. pmc Corneal electrolysis for recurrence of corneal stromal dystrophy after keratoplasty
    Y Mashima
    Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan
    Br J Ophthalmol 86:273-5. 2002
    ..To evaluate corneal electrolysis as a treatment for recurrent diffuse corneal opacities at the host-graft interface of the stroma or at the subepithelial region in two types of granular corneal dystrophy (GCD)...
  52. ncbi Human retina-specific amine oxidase (RAO): cDNA cloning, tissue expression, and chromosomal mapping
    Y Imamura
    Department of Molecular Biology, Keio University School of Medicine, Tokyo, Japan
    Genomics 40:277-83. 1997
    ..The RAO gene (AOC2) was mapped by fluorescence in situ hybridization to human chromosome 17q21. We propose that AOC2 may be a candidate gene for hereditary ocular diseases...
  53. ncbi The influence of aniseikonia on the VEP by random-dot stereogram
    Y Oguchi
    Department of Ophthalmology, School of Medicine, Keio University, Tokyo, Japan
    Acta Ophthalmol (Copenh) 67:127-30. 1989
    ..In the present study, the amount of tolerable aniseikonia in order to maintain stereopsis was considered to be below 5%...
  54. ncbi [DNA diagnosis of Leber's hereditary optic neuropathy performed at Keio University Hospital]
    K Yamada
    Department of Ophthalmology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan
    Nippon Ganka Gakkai Zasshi 105:608-13. 2001
    ..CONCLUSION: Although DNA diagnosis of LHON is a useful clinical test, we must know the clinical characteristics of the disease, before taking advantage of this analysis...
  55. ncbi Dry eye associated with chronic graft-versus-host disease
    Y Ogawa
    Department of Ophthalmology, Institute for Advanced Medical Research, Keio University School of Medicine, Tokyo, Japan
    Adv Exp Med Biol 506:1041-5. 2002
  56. ncbi A deletion in the ornithine aminotransferase gene in gyrate atrophy
    Y Akaki
    Bascom Palmer Eye Institute, University of Miami School of Medicine, Florida 33136
    J Biol Chem 267:12950-4. 1992
    ..The absence of detectable OAT mRNA in this patient is consistent with these premature termination mutations because they have been shown to decrease the level of mRNA, especially if present early in the coding sequence...