Abstract：
PURPOSE:Mutations in the ABCA4 gene result in a broad spectrum of severe retinal degeneration, including Stargardt macular dystrophy, fundus flavimaculatus, autosomal recessive retinitis pigmentosa, and cone-rod dystrophy. In addition to the detection of well-characterized mutations, genetic testing frequently yields novel variants of unknown significance. The purpose of this report is to describe an approach to aid in the assessment of genetic variants of unknown significance. CASE REPORT:We report an 11-year-old girl with Stargardt disease harboring novel compound heterozygous deletions of ABCA4 (c.850_857delATTCAAGA and c.6184_6187delGTCT). The pathogenicity of these variants was otherwise unknown. Both deletions introduce premature stop codons and are localized within the open reading frame of ABCA4. The c.850_857delATTCAAGA occurs early in the gene and leads to a significantly truncated protein of only 317 amino acids. The c.6184_6187delGTCT, is localized to the 3' terminus of the ORF and results in removal of the last 161 out of 2,273 amino acids of ABCA4, including the VFVNFA motif, which has been shown to be critical in ABCA4 protein function. Homology-based protein modeling of ABCA4 harboring this deletion suggests significant alterations in the protein structure and function. CONCLUSIONS:Our analyses allowed us to classify novel variants in ABCA4 as being clearly loss-of-function mutations, and thus pathogenic variants. In cases of variants of unknown significance, appraising the protein structure-function consequences of genetic mutations using in silico tools may help to predict the clinical importance of variants of uncertain pathogenicity.
journal_name
Eur J Ophthalmoljournal_title
European journal of ophthalmologyauthors
Wangtiraumnuay N,Capasso J,Tsukikawa M,Levin A,Biswas-Fiss Edoi
10.5301/ejo.5001019subject
Has Abstractpub_date
2018-01-01 00:00:00pages
123-126issue
1eissn
1120-6721issn
1724-6016pii
02E7D2CC-39B8-46CF-90C1-8055AD423E02journal_volume
28pub_type
杂志文章abstract：PURPOSE:To report variation of choroidal thickness (CT) and choroidal vascularity index (CVI) in subjects with drusen and subjects with reticular pseudodrusen (RPD) compared with healthy individuals using the Spectral-domain (SD)-Optical Coherence Tomography with enhanced depth imaging (EDI) system. DESIGN:A prospecti...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/1120672121992009
更新日期：2021-01-28 00:00:00
abstract：PURPOSE:To describe the management with intracameral recombinant tissue plasminogen activator (rtPA) of severe fibrin effusion after phacoemulsification, and its prevention with sustained-release dexamethasone intravitreal implant. METHODS:A 59-year-old man with chronic HLA-B27-associated uveitis underwent phacoemulsi...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.5301/ejo.5000442
更新日期：2014-07-01 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：PURPOSE:Malignant melanoma associated with a blue nevus is a rare diagnosis. Additionally, only a handful of cases of malignant melanoma associated with blue nevi involving the ocular structures have been reported. We report a probable case of malignant melanoma associated with a blue nevus with metastasis to multiple ...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.5301/EJO.2011.6375
更新日期：2011-09-01 00:00:00
abstract：PURPOSE:To evaluate the safety of a foldable acrylic single-piece intraocular lens (IOL) in cases of complicated cataract surgery and sulcus implantation. The setting was University and private anterior segment surgery practices. METHODS:In this observational case series study, 13 eyes of 13 patients were included aft...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.5301/ejo.5000160
更新日期：2012-11-01 00:00:00
abstract：PURPOSE:To identify PAX6 mutations in patients from four Japanese families with aniridia. METHODS:Polymerase chain reaction (PCR)-single stand conformational polymorphism (SSCP) analysis (SSCA) was performed in probands of the families, and restriction analysis using MaeIII or AvaI was carried out in other affected fa...
journal_title：European journal of ophthalmology
pub_type： 杂志文章,评审
doi：10.1177/112067210001000213
更新日期：2000-04-01 00:00:00
abstract：PURPOSE:To evaluate visual outcomes, eye movement abnormalities, and postoperative complications after secondary posterior chamber intraocular lens (IOL) implantation in aphakic children who had initial LAC correction. METHODS:A retrospective study was carried out on 53 patients (94 eyes). Following aphakic surgery an...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/112067210801800608
更新日期：2008-11-01 00:00:00
abstract：:The study investigated the pattern of the direct-current electroretinogram (ERG) of albino rabbits during prolonged intermittent recording, and whether different initial dark adaptation periods or starting the experiments at different times influenced the results. We examined 27 rabbits under general anesthesia, in th...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：
更新日期：1997-01-01 00:00:00
abstract：PURPOSE:The present study compared the expression of brain-derived neurotrophic factor (BDNF) in the lateral geniculate body between form deprivation amblyopia kittens and normal kittens to examine the significance of BDNF in the lateral geniculate body in the pathogenesis of amblyopia. METHODS:Twenty kittens were div...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/1120672120953341
更新日期：2020-09-01 00:00:00
abstract：PURPOSE:To compare topographic indices of surface regularity in dry eye patients and in normal subjects (controls) and to investigate the short-term effect of lacrimal punctal plugs on these indices in dry eye patients. METHODS:The surface regularity index (SRI) and surface asymmetry index (SAI) of the TMS-2 corneal t...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/112067210101100202
更新日期：2001-04-01 00:00:00
abstract：PURPOSE:Fabry disease retinal vascular involvement has been widely reported, with narrowing of the retinal arterioles, dilation and irregularity of the retinal veins, and exaggerated tortuosity of the retinal vessels. We evaluated retinal vessel diameter in Fabry disease, by means of a dedicated software, aiming to pro...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/1120672119886985
更新日期：2021-01-01 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:Dacryocystorhinostomy (DCR) is the standard surgical treatment for adult nasolacrimal duct obstruction. There have been relatively few studies of closed nasolacrimal duct intubation in adults. The aim of this study was to determine rates of anatomic patency following this procedure. METHODS:The authors carried...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/112067210701700402
更新日期：2007-07-01 00:00:00
abstract：:Purpose. To investigate the sensitivity and specificity of machine learning classifiers (MLC) and spectral domain optical coherence tomography (SD-OCT) for the diagnosis of glaucoma. Methods. Sixty-two patients with early to moderate glaucomatous visual field damage and 48 healthy individuals were included. All subjec...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.5301/ejo.5000183
更新日期：2012-06-15 00:00:00
abstract：PURPOSE:To evaluate the efficacy of AcrySof SN60WF aspheric intraocular lens (IOL) in decreasing spherical aberration and total higher order aberrations (HOAs) after cataract surgery compared to the spherical SN60AT lens. METHODS:Wavefront analysis was conducted on 28 eyes of 28 patients that underwent un-complicated ...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/112067210701700307
更新日期：2007-05-01 00:00:00
abstract：AIM:To test if hyaluronic acid gel injection in the upper eyelid achieves correction of congenital cicatricial ectropion and reduction in lagophthalmos, in preparation for intraocular surgery. METHODS:This case reports the long-term outcome of hyaluronic acid gel injection in the upper eyelid for the correction of ect...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/1120672118805622
更新日期：2020-01-01 00:00:00
abstract：PURPOSE:To emphasize the demographic and occupational characteristics of ophthalmologists primarily involved in retinopathy of prematurity (ROP) care and to ascertain their practices and preferences. METHODS:A questionnaire was sent to all Turkish ophthalmologists known to be primarily involved in ROP. They were asked...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.5301/ejo.5000272
更新日期：2013-07-01 00:00:00
abstract：SIGNIFICANCE:Susac's syndrome is a rare retinocochleocerebral immune-mediated endotheliopathy and clinically manifests as a pathognomonic triad of encephalopathy, hearing loss, and branch retinal artery occlusion. This triad is rarely present at symptom onset, thus, it is often initially misdiagnosed. To date, Susac's ...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/1120672120924545
更新日期：2020-05-07 00:00:00
abstract：OBJECTIVE:To identify complications associated with tumor-related lipid exudation (TRLE) after plaque radiotherapy of posterior uveal melanoma. METHODS:Comparative study including 294 patients with posterior uveal melanoma who developed TRLE after plaque radiotherapy (TRLE group) and 294 patients who did not develop ...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.5301/ejo.5000236
更新日期：2013-05-01 00:00:00
abstract：PURPOSE:To compare ocular findings in eyes with primary open-angle glaucoma (POAG) and exfoliation glaucoma (EG) at the time of diagnosis when identical diagnostic criteria for glaucoma were applied. METHODS:We conducted a study on records of 519 consecutive, unselected patients with chronic glaucoma filing for cost-f...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.5301/ejo.5000516
更新日期：2015-03-01 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
abstract：BACKGROUND:Garcinia cambogia contains hydroxycitric acid. Hydroxycitric acid is a potent competitive inhibitor of adenosine triphosphate citrate lyase which is a key enzyme in the synthesis of fatty acids. Hydroxycitric acid also regulates the level of serotonin. In these regards, hydroxycitric acid has been reported t...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/1120672119872364
更新日期：2020-11-01 00:00:00
abstract：BACKGROUND/AIMS:To assess structural and functional outcomes of treatment with intravitreal aflibercept (®Eylea) for diabetic macular oedema in treatment-naïve patients. METHODS:Sixty-four eyes receiving intravitreal anti-vascular endothelial growth factor therapy were included in the data analysis of this retrospecti...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/1120672120925034
更新日期：2020-05-19 00:00:00
abstract：:Idiopathic macular holes have long been considered to be a stable, untreatable condition with little or no chance of spontaneous visual improvement. Within the last few years, surgical intervention has been developed for the management of idiopathic Stage 3 and Stage 4 holes. With pars plana vitrectomy surgery, at lea...
journal_title：European journal of ophthalmology
pub_type： 杂志文章,评审
doi：
更新日期：1994-01-01 00:00:00
abstract：PURPOSE:To analyze and compare the high performance liquid chromatography (HPLC) runs of tear proteins from diabetic (DIDRY) and non-diabetic (DRY) dry-eye patients, and healthy subjects (CTRL). The patterns were analyzed using multivariate statistical methods. METHODS:Tears (total 56 eyes: CTRL: n=16, DIDRY: n=21, an...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/112067210101100105
更新日期：2001-01-01 00:00:00
abstract：PURPOSE:Ocular toxoplasmosis is associated with vitreoretinal complications that can potentially cause severe visual loss. The aim of this study is to report the preoperative, intraoperative, and postoperative outcomes of vitreous surgery in eyes with vitreoretinal complications secondary to ocular toxoplasmosis. METH...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：
更新日期：2009-11-01 00:00:00
abstract：PURPOSE::To describe the patterns of regression of choroidal melanoma after treatment with plaque brachytherapy. METHODS::Retrospective interventional case series including 170 consecutive patients treated with 103Pd eye plaque radiation for choroidal melanoma. Outcome measures were changes in tumor thickness, surface...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.1177/1120672118776146
更新日期：2018-11-01 00:00:00
abstract：PURPOSE:Iridoschisis is a rare, bilateral condition, found in the elderly and connected with the coexistence of closed-angle glaucoma. Stromal atrophy or separation of the anterior from the posterior laminae with coexisting posterior synechiae are present. Phacoemulsification in eyes with a narrow pupil, unresponsive t...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.5301/ejo.5000300
更新日期：2013-11-01 00:00:00
abstract：:Two cases of idiopathic sclerochoroidal calcification are reported with follow-up of two and ten years. In addition we have reviewed 102 cases of choroidal osteoma, including six misleading case reports which actually described idiopathic sclerochoroidal calcification and not choroidal osteoma. Clinical manifestation ...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：
更新日期：1991-10-01 00:00:00
abstract：PURPOSE:To report on phototherapeutic keratectomy (PTK) in myopic patients who developed spontaneous recurrent corneal erosions (RCE) following IntraLASIK. METHODS:Recurrent corneal erosions developed spontaneously 3-6 months following IntraLASIK in 4 eyes of 4 myopic patients. Diffuse lamellar keratitis (DLK) subsequ...
journal_title：European journal of ophthalmology
pub_type： 杂志文章
doi：10.5301/ejo.5000097
更新日期：2012-01-01 00:00:00
