Abstract：
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. For the OPA1 gene, the exons were amplified by PCR and mutations were detected by restriction enzymes or the dye terminator method. RESULTS:We detected three types of OPA1 mutation but no mtDNA mutations. In the OPA1 gene, heterozygous frameshift mutations from codon 903 due to a four-base pair deletion in exon 27 were detected in three patients from one family (c.2708_2711delTTAG, p.V903GfsX905). A heterozygous mutation due to a three-base pair deletion in exon 17, leading to a one-amino acid deletion (c.1618_1620delACT, p.T540del), and a heterozygous mutation due to a one-base substitution in exon 11, leading to a stop codon (c.1084G>T, p.E362X), were detected in sporadic cases. CONCLUSION:OPA1 mutations existed in three Japanese families with ADOA. After a detailed clinical assessment of the proband, the screening of the OPA1 gene may be helpful for precise diagnosis of ADOA, provided the relevant information of the family members is limited.
journal_name
Jpn J Ophthalmoljournal_title
Japanese journal of ophthalmologyauthors
Hamahata T,Fujimaki T,Fujiki K,Miyazaki A,Mizota A,Murakami Adoi
10.1007/s10384-011-0096-1subject
Has Abstractpub_date
2012-01-01 00:00:00pages
91-7issue
1eissn
0021-5155issn
1613-2246journal_volume
56pub_type
杂志文章abstract：PURPOSE:To investigate the recovery of short-wavelength sensitivity in patients who had undergone successful reattachment of a rhegmatogenous retinal detachment with macular involvement. METHODS:Postoperative assessment of the visual acuity and the visual fields by standard achromatic automated perimetry (SAP), and sh...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-005-0201-4
更新日期：2005-07-01 00:00:00
abstract：PURPOSE:To describe the clinical features and treatment outcomes of severe retinopathy in eyes with incontinentia pigmenti (IP) of infants within a few months of birth. STUDY DESIGN:Retrospective clinical study. METHODS:Six eyes of three patients (6-day-old girl, 5-month-old girl, and 14-day-old boy) with IP were exa...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-020-00768-7
更新日期：2020-11-01 00:00:00
abstract：:Dendritic keratitis occurred during oral acyclovir (ACV) therapy in a 60-year-old man. Corneal stromal edema and iritis were found at his first visit. Herpetic keratouveitis was suspected, based on clinical findings and previous history. Treatment with steroid eyedrops and ACV ointment was initiated. However, ACV [cor...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：
更新日期：1994-01-01 00:00:00
abstract：PURPOSE:To evaluate the effectiveness of the isolated caruncular approach to orbital decompression of thyroid ophthalmopathy. METHODS:In a retrospective, noncomparative, interventional case series, we reviewed the records of 29 patients (48 orbits) who had thyroid ophthalmopathy and had undergone orbital decompression...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-004-0073-z
更新日期：2004-07-01 00:00:00
abstract：PURPOSE:To perform a retrospective study to evaluate the long-term outcome of systemic cyclosporine treatment as an adjunct to topical corticosteroid treatment after penetrating keratoplasty (PKP). METHODS:Twenty-six high-risk patients (27 eyes) who received systemic cyclosporine following PKP for an average of 5.4 mo...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0021-5155(01)00339-2
更新日期：2001-07-01 00:00:00
abstract：:Retinol-binding protein (RBP) is a plasma protein with a molecular weight of 21,000 synthesized in the hepatocytes, binding with retinol (vitamin A), and transporting retinol to peripheral tissues. Keratomalacia is caused by a deficiency of vitamin A itself and/or protein-calorie malnutrition. In the latter condition,...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：
更新日期：1988-01-01 00:00:00
abstract：PURPOSE:To clarify the redox states of the aqueous humor and serum in senile cataract patients. METHODS:We analyzed the reduced and oxidized albumin fractions in 58 patients. The patients had no detectable evidence of other eye or systemic diseases and were divided into two age groups (53-75 and 76-96 years). Analysis...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-010-0877-y
更新日期：2010-11-01 00:00:00
abstract：:Branch retinal vein occlusion (BRVO) is defined as the focal occlusion of a first or second-order branch of retinal vein, which occurs most frequently at an arteriovenous (AV) crossing. Direct ophthalmoscopy, color fundus photography, and fluorescein angiography facilitate observation of AV crossings parallel to the r...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章,评审
doi：10.1007/s10384-019-00676-5
更新日期：2019-09-01 00:00:00
abstract：PURPOSE:To examine the effects of topical steroid instillation on central corneal thickness in eyes with bullous keratopathy (BK). STUDY DESIGN:Retrospective case series METHODS: Consecutive patients with BK who did not wish to receive corneal transplantation and were treated with 0.1% betamethasone eyedrops were incl...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-019-00658-7
更新日期：2019-05-01 00:00:00
abstract：PURPOSE:To verify, by use of data collected by the Japan Glaucoma Society Survey of Bleb-related Infection (JGSSBI), that bleb morphology changes within 12 months of the development of bleb-related infection. METHODS:JGSSBI data from 57 eyes of 57 patients with primary open-angle glaucoma and normal tension glaucoma w...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章,多中心研究
doi：10.1007/s10384-015-0398-9
更新日期：2015-09-01 00:00:00
abstract：:Fluoroquinolones provide an important single antibiotic therapy for bacterial keratitis caused by Staphylococcus aureus and numerous gram-negative bacteria, including Pseudomonas aeruginosa. The pharmacokinetics of three ocular fluoroquinolones, norfloxacin (CHIBOXIN, Merck, Sharp & Dohme), ciprofloxacin (CILOXAN, Alc...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：
更新日期：1996-01-01 00:00:00
abstract：PURPOSE:To determine the psychological state and personality traits of patients with retinitis pigmentosa (RP) or glaucoma so that a closer and better relationship can be developed with the patients. METHODS:The Yatabe-Guilford personality test was administered to 75 RP patients and 42 glaucoma patients. The latter gr...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0021-5155(02)00621-4
更新日期：2003-01-01 00:00:00
abstract：PURPOSE:To compare the progression of posterior vitreous detachment (PVD) during aging among eyes of diabetics with diabetic retinopathy (DR), eyes of diabetics without DR, and eyes of nondiabetics. STUDY DESIGN:Prospective cross-sectional study. METHODS:One-hundred thirty-three diabetic eyes with DR (DR group), 254 ...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-020-00720-9
更新日期：2020-03-01 00:00:00
abstract：PURPOSE:To verify the current Japanese classification of vision disability in regard to visual acuity. METHODS:A questionnaire was sent to 100 ophthalmology services in Japan. Each service was asked to extract 300 of their outpatient records. From these records, patients who had a sum of corrected visual acuity in bot...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章,多中心研究
doi：10.1007/s10384-011-0081-8
更新日期：2011-11-01 00:00:00
abstract：:A 76-year-old Japanese woman had suffered from fatigue, weight loss, and cutaneous hyperpigmentation at the age of 38 years and was diagnosed as having tuberculous Addison's disease. Since then, corticosteroids had been administered effectively as hormonal replacement. At the age of 75 years, the patient presented wit...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0021-5155(98)00024-0
更新日期：1998-09-01 00:00:00
abstract：:Using polymerase chain reaction, we detected the varicella-zoster virus genome in the vitreous humor of two patients with clinically diagnosed acute retinal necrosis. One of the two cases was thought to be caused by infection with a varicella-zoster virus lacking a PstI cleavage site. We could not find any clinical di...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0021-5155(98)00005-7
更新日期：1998-05-01 00:00:00
abstract：:Purpose: To confirm the intraocular dynamics of 1% deuterium (D) labeled alpha-tocopheral acetate (VEA) solution.Methods: The concentrations of D(3)-VEA and D(3)-alpha-tocopherol (VE) derived from D(3)-VEA in the aqueous humor and lens were measured after instilling 1% D(3)-VEA continuously into the cul-de-sac of rat ...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0021-5155(00)00315-4
更新日期：2001-01-01 00:00:00
abstract：PURPOSE:To investigate the utility values associated with visual loss due to age-related macular degeneration (AMD) in Japanese patients. METHODS:Utility values in 48 Japanese patients with bilateral exudative AMD were measured using the time trade-off and standard gamble methods. RESULTS:The time trade-off method ut...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-010-0893-y
更新日期：2011-01-01 00:00:00
abstract：PURPOSE:To verify the possibility that preoperative topical antibiotics are not essential as long as iodine disinfection is performed during surgery. STUDY DESIGN:Crossover equivalence trial. PATIENTS AND METHODS:In 204 eyes of 102 patients who underwent routine bilateral cataract surgery, 1 eye was treated with intr...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-019-00703-5
更新日期：2020-01-01 00:00:00
abstract：BACKGROUND:Although human immunodeficiency virus (HIV)-related ocular complexes are commonly observed in acquired immune deficiency syndrome (AIDS) patients, it has not been previously reported that HIV had already invaded the ocular tissues of HIV carriers. CASE:A 56-year-old woman was diagnosed as having rhegmatogen...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0021-5155(00)00278-1
更新日期：2000-11-01 00:00:00
abstract：PURPOSE:To evaluate the effects of anti-alphabeta T cell receptor monoclonal antibody (R73) on the induction of experimental autoimmune uveoretinitis (EAU) in rats. METHODS:Lewis rats in which EAU was induced were treated with R73. All rats were examined for the clinical course of EAU, pathological findings of the glo...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0021-5155(02)00538-5
更新日期：2002-09-01 00:00:00
abstract：: ...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章,评审
doi：10.1007/s10384-018-0627-0
更新日期：2018-11-01 00:00:00
abstract：:Purpose: We have developed a new method for quantification of metamorphopsia and applied it to study distorted vision resulting from epiretinal membrane (ERM).Patients and Methods: We prepared a modified Amsler chart, which was a square grid formed by black lines on a white background with 12 cm on a side and divided ...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0021-5155(00)00157-x
更新日期：2000-05-01 00:00:00
abstract：:A major and a minor ascorbate free radical (AFR) reductase were separated from the soluble fraction in the human lens cortex by DEAE-cellulose ion-exchange column chromatography. These AFR reductases also exhibited diaphorase activity using dichlorophenolindophenol and ferricyanide as electron acceptors. The major AFR...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：
更新日期：1994-01-01 00:00:00
abstract：PURPOSE:To evaluate the occurrence of hyperemia with, and efficacy of, bimatoprost 0.01 % for patients in Korea previously treated for open-angle glaucoma (OAG; including normal tension glaucoma) or ocular hypertension (OHT). METHODS:In this multicenter, observational study (Asia Pacific Patterns from Early Access of ...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章,多中心研究
doi：10.1007/s10384-015-0392-2
更新日期：2015-09-01 00:00:00
abstract：PURPOSE:A prospective study was conducted to compare the effectiveness, safety, and stability of photorefractive keratectomy (PRK) and laser in situ keratomileusis (LASIK) for correction of low to moderate myopia. METHODS:Forty-five patients with a manifest refraction (PRK, -4.54 +/- 0.80; LASIK, -4.82 +/- 1.10) from ...
journal_title：Japanese journal of ophthalmology
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/s0021-5155(01)00406-3
更新日期：2001-09-01 00:00:00
abstract：:A case of unilateral disc-shaped cataract with coloboma of the lens is reported. The patient, a 17-year-old girl, had best corrected visual acuity of 0.01 (+ 9 D) in the right eye and 1.2 in the left eye. Exotropia of 10 Hirschberg degrees was found in her right eye. The visual disturbance of that eye was thought to b...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：
更新日期：1988-01-01 00:00:00
abstract：PURPOSE:To compare the visualization of microaneurysms (MAs) in patients with diabetic retinopathy (DR) using optical coherence tomography angiography (OCTA) with that using fluorescein angiography (FA). STUDY DESIGN:Prospective, clinical, and experimental. METHODS:This study was a prospective evaluation of imaging t...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-018-0570-0
更新日期：2018-03-01 00:00:00
abstract：:Regulation of fluid flow through corneal stroma was investigated in the bullfrog. Corneal specimens were mounted by clamping their limbal sclera between the two chambers of a Ussing-type chamber. The epithelial surface was covered with Ringer's solution, while the endothelial surface was superfused with Ringer's solut...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0021-5155(97)00111-1
更新日期：1998-01-01 00:00:00
abstract：PURPOSE:A new method for quantification of metamorphopsia was applied to study distorted vision in patients with epiretinal membrane. METHOD:Sixty-three patients with unilateral epiretinal membrane in the macula were examined. A modified Amsler chart (a grid of black lines on a white background measuring 12 x 12 cm wi...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0021-5155(00)00173-8
更新日期：2000-07-01 00:00:00
