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 ABCA4 involvement in retinal dystrophies. METHODS:The 50 exons of the ABCA4 gene have been analyzed through denaturing high performance liquid chromatography (DHPLC) and direct sequencing of samples displaying altered elution profiles. RESULTS:Four new and five known mutations were identified in our patients; except for one new deletion detected in a patient with Stargardt disease, all the remaining variations are single nucleotide substitutions resulting in missense mutations. CONCLUSIONS:The results further underline the genetic heterogeneity of retinal disorders, suggesting that more than one gene could differentially contribute to at least some forms of retinal degeneration. Finding a high proportion of novel mutations merits the use of scanning methodologies to analyze the whole coding region of the ABCA4 gene.
journal_name
Eur J Ophthalmoljournal_title
European journal of ophthalmologyauthors
Stenirri S,Battistella S,Soriani N,Bernal S,Baiget M,Ferrari M,Cremonesi Ldoi
10.1177/112067210701700510subject
Has Abstractpub_date
2007-09-01 00:00:00pages
749-54issue
5eissn
1120-6721issn
1724-6016journal_volume
17pub_type
杂志文章abstract：PURPOSE:To report a case of Escherichia coli endophthalmitis after trans-scleral resection of an uveal melanoma. METHODS:A large ciliary body melanoma was treated by trans-scleral resection and full-thickness sclerectomy because of epibulbar tumor extrusion, followed by adjuvant ruthenium plaque therapy. RESULTS:Two ...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/112067210201200517
更新日期：2002-09-01 00:00:00
abstract：OBJECTIVES:Complete epithelial wound healing is a milestone in early postoperative care after penetrating keratoplasty. The re-epithelialization rate after penetrating keratoplasty was measured in patients receiving a new matrix therapy agent (regenerating agent, Cacicol®) that mimics heparan sulphates. METHODS:This w...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/1120672118808971
更新日期：2020-01-01 00:00:00
abstract：PURPOSE:To examine the association between Lp(a) concentrations and the severity of retinopathy in 22 younger-onset and 48 older-onset diabetic subjects from the Wisconsin Epidemiologic Study of Diabetic Retinopathy (WESDR), a population-based study of diabetic retinopathy. METHODS:We used a subset of the WESDR popula...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：
更新日期：1995-04-01 00:00:00
abstract：:Bruch's membrane, an extracellular matrix located between the retinal pigment epithelium and the choroid, plays a vital role as structural and functional support to the retinal pigment epithelium. Dysfunction of Bruch's membrane in both age-related macular degeneration and other ocular diseases is caused mostly by ext...
journal_title：European journal of ophthalmology
pub_type： 杂志文章,评审
doi：10.1177/1120672120919337
更新日期：2020-11-01 00:00:00
abstract：PURPOSE:To assess efficacy, safety, and predictability after refractive lens exchange (RLE) in patients who had bilateral implantation of an Acri.LISA 366D diffractive bifocal intraocular lens (IOL). METHODS:Sixty-six eyes of 33 consecutive patients were examined after RLE who had bilateral implantation of an Acri.LIS...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.5301/ejo.2010.2991
更新日期：2011-03-01 00:00:00
abstract：PURPOSE:To examine whether vitrectomy combined with retinal photocoagulation reduces the vitreous level of vascular endothelial growth factor (VEGF) in patients with macular edema associated with retinal vein occlusion (RVO). METHODS:The authors measured VEGF levels in vitreous samples from four eyes of four patients ...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/112067210801800628
更新日期：2008-11-01 00:00:00
abstract：PURPOSE:To evaluate the efficacy, safety, and tolerability of Timogel® preservative-free once daily compared to timolol 0.5% ophthalmic solution bid in patients with ocular hypertension (OHT) and patients with primary open-angle glaucoma (POAG). METHODS:A total of 75 patients with OHT and patients with POAG treated wi...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.5301/ejo.5000006
更新日期：2012-01-01 00:00:00
abstract：PURPOSE:To evaluate the choroidal vascularity index of eyes for acute and chronic central serous chorioretinopathy patients using swept-source optical coherence tomography generated en-face scans. METHODS:This was a retrospective study, in which slabs of en-face optical coherence tomography scans, at 5 μm intervals, s...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/1120672120908719
更新日期：2020-02-27 00:00:00
abstract：INTRODUCTION:Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a novel virus causing an ongoing pandemic in 2020. Although the symptomatic patients infected by SARS-CoV-2 generally show respiratory distress, atypical manifestations such as conjunctivitis are also observed. A series of cases are reported i...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/1120672120946287
更新日期：2020-07-24 00:00:00
abstract：PURPOSE:To report an unusual complication of treatment in the case of a Descemets membrane detachment. METHODS:Observational case report. RESULTS:A 79-year-old woman presented for elective cataract surgery. Ocular risk factors identified preoperatively included moderately shallow anterior chambers bilaterally, previo...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.5301/EJO.2008.5031
更新日期：2006-09-01 00:00:00
abstract：PURPOSE:To evaluate the effects of levodopa and dopamine agonists on retinal nerve fiber layer using scanning laser ophthalmoscope. METHODS:Forty-four patients with the diagnosis of Parkinson disease and receiving levodopa or dopamine agonist monotherapy were included in this prospective study. The control group consi...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/112067210701700520
更新日期：2007-09-01 00:00:00
abstract：PURPOSE:To determine the visual outcome, intraocular lens (IOL) stability and posterior capsule opacification (PCO) rate of a hydrophobic acrylic intraocular lens. SETTING:Vienna Institute for Research in Ocular Surgery, Hanusch Hospital, Vienna, Austria. DESIGN:This double-masked randomised study included patients w...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/1120672120960591
更新日期：2020-09-29 00:00:00
abstract：PURPOSE:To evaluate epithelial healing and visual outcome after laser-assisted subepithelial keratectomy (LASEK) without alcohol de-epithelialization and to compare this technique to photorefractive keratectomy (PRK) in myopia. METHODS:In a series of 1953 patients undergoing bilateral myopic PRK, an epithelial flap co...
journal_title：European journal of ophthalmology
pub_type： 临床试验,杂志文章
doi：10.1177/112067210301300802
更新日期：2003-10-01 00:00:00
abstract：PURPOSE:To evaluate the efficacy and safety of laser in situ keratomileusis (LASIK) in partially refractive accommodative esotropia (pRAE) and fully refractive accommodative esotropia (fRAE). METHODS:Forty-two eyes of 21 patients who had LASIK for correcting hyperopic refractive error were evaluated. Refractive errors...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/112067210901900508
更新日期：2009-09-01 00:00:00
abstract：PURPOSE:To determine the relationship between movements of the posterior and anterior eye segments during arbitrary gaze shifts and to obtain information for monitoring fixation during radiotherapy for ocular diseases. METHODS:We examined eye movements of ten emmetropic volunteers in a 1.5 T magnetic resonance system....
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/112067210301300212
更新日期：2003-03-01 00:00:00
abstract：PURPOSE:To describe a patient who developed diplopia, lagophthalmos and exposure keratopathy due to a large subconjunctival emphysema. METHODS:A 24-year-old man sustained an injury in his left eye from a compressed air hose. The patient complained of pain and diplopia. He underwent slit-lamp examination, funduscopy an...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/112067210301300113
更新日期：2003-01-01 00:00:00
abstract：PURPOSE:To evaluate the long-term efficacy and safety of standard-fluence photodynamic therapy (PDT) with verteporfin using the minimum PDT spot size in patients with diffuse retinal pigment epitheliopathy (DRPE). METHODS:This is a retrospective study of 67 DRPE cases treated with PDT using a standardized minimum spot...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.5301/ejo.5000541
更新日期：2015-05-01 00:00:00
abstract：:Electroretinogram (ERG) changes with age have been studied widely, but there is no general agreement about the age at which ERG parameters reach adult values. We studied 296 eyes from 148 healthy subjects, divided into 14 age groups, ranging from 1 week to 21 years. Although most of the maturational changes or ERG tak...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：
更新日期：1993-01-01 00:00:00
abstract：:Vascular involvement is a well known manifestation of Behçet's disease (BD) and may effect systemic and regional circulation in patients with BD. We evaluated ophthalmic and central retinal artery flow velocities in these patients. Mean ophthalmic and central retinal artery flow velocities were lower in patients with ...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：
更新日期：1996-04-01 00:00:00
abstract：:Indocyanine green video-angiography (ICG) was done twice on three patients with choroidal osteoma. Choroidal osteoma consisted of two portions, a yellow-white area and a surrounding orange area. The early phase of ICG angiography showed hypofluorescence due to blockage, corresponding to the osteoma. However, the hypof...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：
更新日期：1994-10-01 00:00:00
abstract：:Most cases of retinoblastoma are diagnosed before the age of 5 years. The cases in older age groups can have variable presentations leading to misdiagnosis and management challenges. We report a case of retinoblastoma in an 8-year-old female who was primarily referred as a case of sympathetic ophthalmia due to a co-in...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/1120672120939388
更新日期：2020-07-02 00:00:00
abstract：PURPOSE:To identify factors that determined the outcome of eyes that underwent pars plana vitrectomy for retained lens fragments after phacoemulsification. METHODS:A retrospective review of the records of 63 eyes that underwent vitrectomy for retained lens fragments after phacoemulsification. Fragments were defined as...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.5301/EJO.2011.6483
更新日期：2011-11-01 00:00:00
abstract：:A 62-year-old female developed pseudophakic bullous keratopathy after cataract surgery and underwent Descemet stripping automated endothelial keratoplasty (DSAEK). Intraoperatively, a white opacified pre-Descemet's layer was noticed after scoring and removal of trypan blue stained Descemet's membrane (DM), and endothe...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/1120672120974271
更新日期：2020-11-30 00:00:00
abstract：PURPOSE:To calculate the reliability of an eye-dedicated triaging system named Rome Eye Scoring System for Urgency and Emergency (RESCUE). METHODS:There were four coding parameters: pain, redness, loss of vision, and risk of open globe. Each parameter is assigned a score, the sum of which allows color coding. There we...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/112067210801800321
更新日期：2008-05-01 00:00:00
abstract：PURPOSE:To evaluate in a retrospective study the long-term usefulness of red 647 nm krypton and 670 nm diode laser for transscleral contact cyclophotocoagulation (CPC) in the treatment of therapy-resistant inflammatory glaucoma. METHODS:The authors treated 48 eyes of 38 consecutive patients (mean age 36.8 years, range...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/112067210701700412
更新日期：2007-07-01 00:00:00
abstract：:Wet age-related macular degeneration is a chronic condition culminating, in most cases, in blindness. The introduction of anti-angiogenic agents in 2006 has represented a major breakthrough in the treatment of the disease, but timely and effective treatment with regular follow-up and monitoring is mandatory to stabili...
journal_title：European journal of ophthalmology
pub_type： 杂志文章,评审
doi：10.1177/1120672120915685
更新日期：2020-07-01 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：BACKGROUND:The aim of this study was to determine the intra-session repeatability and inter-examiner reproducibility of the colour perimetry technique when assessing in vivo macular pigment optical density in age-related macular degeneration patients. METHODS:Age-related macular degeneration patients were classified i...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/1120672119870362
更新日期：2020-11-01 00:00:00
abstract：:We present an unusual case of Sturge-Weber syndrome whose main clinical manifestations were nevus flammeus, seizures, glaucoma, and acoria. To our knowledge, the combination of Sturge-Weber syndrome and acoria has not been previously reported. ...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/1120672118804795
更新日期：2020-01-01 00:00:00
abstract：PURPOSE:To present an unusual case of simultaneous bilateral retinal detachment (RD) following a coronary artery bypass graft in a patient with acute myocardial infarction (AMI). METHODS:A 78-year-old man was first seen for bilateral sudden visual loss after surgical treatment of AMI. The patient underwent ultrasound ...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/112067210701700530
更新日期：2007-09-01 00:00:00
