Abstract:
PURPOSE:The authors report the ophthalmic characteristics of a male proband in a Japanese family with autosomal dominant optic atrophy (DOA) harboring a frameshift mutation in the OPA1 gene. METHODS:Conventional ophthalmologic examinations including static automated perimetry were performed, as well as assessment of the three-generation family history. The peripapillary retinal nerve fiber layer (RNFL) was evaluated using scanning laser polarimetry. Mutation screening of the OPA1 gene was performed with polymerase chain reaction amplification and direct sequencing. RESULTS:A frameshift mutation (p.V942fsX966) was identified in the proband and his mother. In comparison with the adolescent onset of visual loss in the proband and his maternal grandfather, the mother presented with only subtle temporal disc pallor and has never been aware of any visual disturbances. Symmetric thinned peripapillary RNFL was detected in the proband, whose visual field abnormalities were limited to central scotomas and were without mean deviation worsening between 11 to 17 years of age in both eyes. The proband's logMAR visual acuity (0.52 to 0.7) has remained almost unchanged for more than 10 years since initial evaluation at age 10. CONCLUSIONS:The OPA1 mutation may be correlated with slow progression of DOA, and with phenotypic variations within the family. Further study is necessary to determine whether symmetric thinned peripapillary RNFL represents a feature of DOA.
journal_name
Eur J Ophthalmoljournal_title
European journal of ophthalmologyauthors
Hayashi T,Takeuchi T,Gekka T,Kitahara Kdoi
10.1177/112067210701700216subject
Has Abstractpub_date
2007-03-01 00:00:00pages
253-8issue
2eissn
1120-6721issn
1724-6016journal_volume
17pub_type
杂志文章abstract:PURPOSE:Preoperative and postoperative optical coherence tomography (OCT) of macular pathologies can be regarded as the gold standard diagnostic technique, providing detailed information on the microstructures of the macula for planning the surgical procedure and comparing improvements after surgery in the follow-up pe...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.5301/ejo.5001058
更新日期:2018-05-01 00:00:00
abstract:PURPOSE:To evaluate the efficiency and safety of refractive lens exchange for the correction of high myopia. METHODS:We made a prospective study of the results of refractive lens exchange in 72 eyes that had undergone this surgical procedure between January 1996 and January 2001. Lens extraction by phacoemulsification...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/112067210201200507
更新日期:2002-09-01 00:00:00
abstract:PURPOSE:The effect of elevated blood glucose level on the myogenic response of human retinal arterioles to acute increases in blood pressure is investigated. METHODS:The vascular response to raised blood pressure (Bayliss effect) was measured in 12 healthy volunteers by use of the retinal vessel analyzer (RVA). For a ...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/112067210501500109
更新日期:2005-01-01 00:00:00
abstract:PURPOSE:In this article, we evaluate subfoveal choroidal thickness in celiac patients with respect to adherence to the gluten-free diet and nonadherence to the gluten-free diet, comparing with age and sex matched healthy controls using spectral-domain optical coherence tomography. MATERIALS AND METHODS:A case-control ...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/1120672119850071
更新日期:2020-09-01 00:00:00
abstract:PURPOSE:To look for ophthalmologic abnormalities in 15 patients with Wolfram syndrome, also known as DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). METHODS:Fifteen patients from four inbred families diagnosed as having Wolfram syndrome at the National Center for Diabetes, Endocri...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/112067210201200202
更新日期:2002-03-01 00:00:00
abstract:OBJECTIVE:To investigate the potential correlation between complement factor B polymorphisms and age-related macular degeneration. METHODS:We retrieved relevant articles systematically by searching PubMed and Web of Science databases. The pooled odds ratios and 95% confidence intervals were calculated for five complem...
journal_title:European journal of ophthalmology
pub_type: 杂志文章,meta分析
doi:10.1177/1120672119840245
更新日期:2020-07-01 00:00:00
abstract:PURPOSE:To study the correlation between final visual acuity after successful anatomic macular hole repair and features on spectral domain optical coherence tomography (SD-OCT). METHODS:Retrospective review of charts of patients who underwent macular hole surgery. Data collection included pre- and postoperative best-c...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/112067211002000306
更新日期:2010-05-01 00:00:00
abstract:PURPOSE:Posterior microphthalmos is a rare ocular abnormality. The authors report two siblings with bilateral posterior microphthalmos. METHODS:Two siblings (aged 10 and 13) were admitted with a history of low degree of vision. Ophthalmologic examinations, ocular ultrasonography, ultrasonic biomicroscopy (UBM), and op...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/112067210801800331
更新日期:2008-05-01 00:00:00
abstract:PURPOSE:Various methods have been used for testing peripheral visual field disturbances such as defects caused by drug toxicity. Static threshold perimetry with Humphrey Field Analyzer (HFA) is widely available. The aim of this study was to better define the normal thresholds for peripheral visual field (PVF) sensitivi...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.5301/EJO.2011.6299
更新日期:2011-07-01 00:00:00
abstract:PURPOSE:To compare demographic and clinical data, systemic disease association, visual prognosis, and complications found in childhood and adult onset of intermediate uveitis (IU). METHODS:Retrospective cohort study of 287 patients with IU: 122 (42.5%) children at onset (<16 years), 165 (57.5%) adults. The data were e...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.5301/ejo.5000336
更新日期:2014-01-01 00:00:00
abstract:PURPOSE:To investigate color vision and its relation with the type of amblyopia and visual acuity of amblyopic eyes. METHODS:In this prospective study, 67 amblyopic eyes of 64 patients, aged from 4 to 13 years (mean 6.8 +/- 2.1) and 26 eyes of 13 control subjects aged from 5 to 13 years (mean 7.3 +/- 1.6) were examine...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/112067210001000113
更新日期:2000-01-01 00:00:00
abstract:PURPOSE:Among the 500 ABCA4 mutations identified so far in the retina-specific ABC transporter (ABCA4) gene, only 20 have been described in patients with autosomal recessive retinitis pigmentosa (arRP). In this study the gene was screened for mutations in a cohort of 25 patients of Spanish origin, to further assess ABC...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/112067210701700510
更新日期:2007-09-01 00:00:00
abstract:INTRODUCTION:Parinaud syndrome, caused by midbrain infarction, usually manifests as an ocular conjugate upgaze palsy. However, this sign should not point out straightforwardly to Parinaud syndrome, as other lesions in the central nervous system could cause it. CASE DESCRIPTION:The case of a 47-year-old woman showing a...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/1120672119855845
更新日期:2020-11-01 00:00:00
abstract:AIMS:To investigate alterations in deep retinal vascular complex (DVC) in patients with non-neovascular intermediate AMD (iAMD), treatment-naïve quiescent macular neovascularization (qMNV), exudative AMD (eAMD) by means of OCT angiography (OCTA). METHODS:Patients with iAMD, qMNV, eAMD and healthy controls presenting i...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/1120672120968758
更新日期:2020-11-03 00:00:00
abstract::In myopia patients, Rh and acid phosphatase were typed in two groups: group 1 consisted of 214 patients with low myopia (-6 D or less); group 2 of 124 patients with high myopia (more than -6 D). Statistical analysis of the markers showed a good Hardy-Weinberg equilibrium for both groups. In the Rh system there was a s...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:
更新日期:1992-10-01 00:00:00
abstract:PURPOSE:To present a case of ocular decompression retinopathy occurring after an uncomplicated nonpenetrating glaucoma procedure (deep sclerectomy with mitomycin C). METHODS:A 52-year-old man with medically uncontrolled exfoliation glaucoma in the left eye underwent uneventful deep sclerectomy with mitomycin C. The pa...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.5301/EJO.2010.5731
更新日期:2011-05-01 00:00:00
abstract:PURPOSE:The aim of the present study was to evaluate the efficacy of diode laser cyclophotocoagulation (DCPC) and cyclocryotherapy (CCT) in the treatment of refractory glaucoma and compare the postoperative complications and discomfort rates. METHODS:In a prospective, randomized, controlled clinical study, 40 eyes of ...
journal_title:European journal of ophthalmology
pub_type: 杂志文章,随机对照试验
doi:10.5301/EJO.2011.6326
更新日期:2011-09-01 00:00:00
abstract:PURPOSE:To describe the unusual complication of retinal pigment epithelial (RPE) tear after intravitreal ranibizumab (Lucentis) for subfoveal fibrovascular pigment epithelial detachment (PED) and its effective management. METHODS:Chart review for case report of RPE tear after ranibizumab. RESULTS:An inferior RPE tear...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/112067210701700432
更新日期:2007-07-01 00:00:00
abstract:PURPOSE:To evaluate optical coherence tomography (OCT) modifications of outer retinal layers as determinants for functional recovery after surgery for idiopathic macular hole (IMH). METHODS:This prospective study included 23 eyes of 23 consecutive patients who underwent vitreoretinal surgery for IMH. We excluded patie...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.5301/ejo.5000905
更新日期:2017-03-10 00:00:00
abstract:PURPOSE:Timely screening of premature babies is an important initial step in the management of retinopathy of prematurity (ROP) as earlier treatment results in improved visual prognosis. Screening criteria for ROP currently recommended by the American Academy of Pediatrics may not be applicable in developing countries....
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/112067211002000417
更新日期:2010-07-01 00:00:00
abstract:PURPOSE:To report a new family belonging to a previously non-investigated geographic are a with a rare form of lattice corneal dystrophy (LCD). METHODS:Detailed ophthalmologic analysis was carried out on a Bulgarian woman, enrolled for perforating keratoplasty. In order to obtain a final diagnosis both histology and g...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/112067210501500624
更新日期:2005-11-01 00:00:00
abstract:PURPOSE:To evaluate the short-term efficacy and safety of intravitreal bevacizumab in myopic choroidal neovascularization (mCNV). METHODS:In this noncomparative, consecutive, interventional case series, 12 eyes of 11 patients with mCNV without any previous treatment were included. Patients received intravitreal bevaci...
journal_title:European journal of ophthalmology
pub_type: 临床试验,杂志文章
doi:10.1177/112067210701700422
更新日期:2007-07-01 00:00:00
abstract:PURPOSE:To verify the diagnostic value of closed chamber thermometry and humidity measurement in normal and dry eye patients. METHODS:In 20 patients (40 eyes) with dry eye and 20 normal sex- and age-matched controls (40 eyes), aged from 11 to 61 years (mean 37.52 yrs, standard deviation, (SD) 14.81) temperature was me...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/112067210301300403
更新日期:2003-05-01 00:00:00
abstract:PURPOSE:To investigate the low mesopic contrast sensitivity function (LMCSF) of patients implanted with different modern optical bifocal and trifocal designs of multifocal intraocular lenses (mfIOLs). METHODS:This prospective, comparative, nonrandomized consecutive case series included 180 eyes that underwent cataract...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.5301/ejo.5000777
更新日期:2016-11-04 00:00:00
abstract:PURPOSE:To assess efficacy and safety of angle-supported phakic intraocular lenses (PIOL) implanted after scleral buckling for retinal detachment. SETTING:Private practice in Siena, Italy. METHODS:Retrospective, noncomparative consecutive case series. Inclusion criteria for retrospective evaluation were previous unco...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/112067210701700319
更新日期:2007-05-01 00:00:00
abstract:PURPOSE:To describe a case of bilateral eyelid-confined giant cell angiofibroma (GCAF) in a patient with a slowly progressive bilateral eyelid swelling. METHODS:A 40-year-old man with a 5-year history of slowly progressive bilateral eyelid swelling, severe functional impairment, and bilateral cosmetic deformity was st...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/112067211002000608
更新日期:2010-11-01 00:00:00
abstract:PURPOSE:To investigate the ocular and orbital complications observed in children treated for retinoblastoma. SUBJECTS AND METHODS:We retrospectively studied 73 children (39 boys, 34 girls) suffering from retinoblastoma. Thirty-six had bilateral tumor and 37 unilateral disease for a total of 109 eyes affected. The foll...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:
更新日期:1998-04-01 00:00:00
abstract:INTRODUCTION:The authors describe benefits of the recognised adverse effects of prostaglandin analogues on periocular structures in patients with unilateral proptosis and intraocular pressure rise. This case points to intentional consideration of prostaglandin analogue therapy in this selected cohort of patients with s...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/1120672120905296
更新日期:2020-02-11 00:00:00
abstract::Although it is now possible to significantly reduce the incidence of blindness secondary to diabetes mellitus, large numbers of diabetic patients still experience visual loss due to retinal complications of the disease. This implies that protocols for the diagnosis and treatment of diabetic retinopathy used in the var...
journal_title:European journal of ophthalmology
pub_type: 社论
doi:10.1177/112067219900900302
更新日期:1999-07-01 00:00:00
abstract:PURPOSE:To evaluate the use of the resorbable polylactic acid polymer implants (Resorb X) in the management of orbital floor blow-out fractures as regards safety, cosmetic, and functional results. METHODS:In a prospective, interventional case series, 22 patients with traumatic blow-out floor fractures underwent lower ...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/1120672120928005
更新日期:2020-05-31 00:00:00