Abstract：
PURPOSE:To investigate complex and different phenotypes in seven Chinese patients diagnosed with Bardet-Biedl syndrome (BBS) and carrying pathogenic mutations. METHODS:Seven unrelated BBS patients were enrolled. Their medical and ophthalmic histories were reviewed, and comprehensive clinical examinations, such as fundus photography, optical coherence tomography, and medical imaging, were performed. A specific hereditary eye disease enrichment panel based on exome-capture technology was used to collect and amplify the protein-coding regions of 441 targeted hereditary eye disease genes, followed by high-throughput sequencing using the Illumina HiSeq platform. RESULTS:All patients exhibited the primary clinical phenotype of BBS. Seven BBS mutations were found in five patients (BBS7 in two patients, BBS10 in two patients, BBS12 in one patient), for a detection rate of 71% (5/7). The ratio of novel to known BBS mutations was 5:2. CONCLUSIONS:This study showed the phenotypic and genotypic spectrum of BBS patients from China, and the findings underscore the importance of obtaining comprehensive clinical observations and molecular analyses for ciliopathies.
journal_name
Int Ophthalmoljournal_title
International ophthalmologyauthors
Tao T,Wang L,Chong W,Yang L,Li Gdoi
10.1007/s10792-020-01415-3subject
Has Abstractpub_date
2020-09-01 00:00:00pages
2325-2343issue
9eissn
0165-5701issn
1573-2630pii
10.1007/s10792-020-01415-3journal_volume
40pub_type
杂志文章abstract：:Angiolymphoid hyperplasia with eosinophilia (ALHE) is an uncommon disease most frequently occurring in the head and neck region. It occurs in all races. In spite of a clear distinction between ALHE and Kimura's disease on histological grounds for almost 20 years now, confusion and misdiagnosis still exist to date. Thr...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/s10792-013-9741-7
更新日期：2014-02-01 00:00:00
abstract：PURPOSE:To evaluate the changes on optical coherence tomography angiography (OCTA) in macula-off rhegmatogenous retinal detachments (RRD) treated with pars plana vitrectomy (PPV) and silicone oil (SO) 5000-cSt tamponade. MATERIALS AND METHOD:Forty-five eyes with macula-off RRD treated with PPV and SO tamponade were en...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/s10792-020-01516-z
更新日期：2020-12-01 00:00:00
abstract：PURPOSE:Proliferative vitreoretinopathy (PVR) is characterized by the formation of cellular membranes on the detached retina and also in the vitreous. Glial cells can be found in epiretinal and subretinal membranes from eyes with PVR, proliferative diabetic retinopathy (PDR), idiopathic macular pucker, uveitis and othe...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1023/a:1022509614815
更新日期：2001-01-01 00:00:00
abstract：:After glaucoma filtering surgery subconjunctival injection of human recombinant tissue plasminogen activator may promote the function of glaucoma filter bleb and increase outflow facility. It can also increase postoperative complications, such as corneal damage. The aim of our research was to determine corneal endothe...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/BF00156413
更新日期：1995-01-01 00:00:00
abstract：PURPOSE:To report a case of retinal pigment epithelial tear following intravitreal ranibizumab injection for subfoveal choroidal neovascularization. METHODS:Retrospective single case review. RESULTS:A 78-year-old Caucasian female was treated with intravitreal ranibizumab for occult subfoveal choroidal neovascularizat...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/s10792-007-9066-5
更新日期：2007-02-01 00:00:00
abstract：:Diplopia is a very disturbing condition that has been reported as a complication of several surgical procedures. The following review aims to identify the ocular and nonocular surgical techniques more often associated with this undesirable result. Diplopia is reported as an adverse outcome of some neurosurgical proced...
journal_title：International ophthalmology
pub_type： 杂志文章,评审
doi：10.1007/s10792-014-9927-7
更新日期：2014-08-01 00:00:00
abstract：:To determine changes in choroidal thickness in patients with central serous chorioretinopathy (CSCR) during the first 3 months after initial diagnosis and assess variable therapeutic interventions via enhanced depth imaging spectral-domain optical coherence tomography (EDI-OCT). In this prospective study, choroidal th...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/s10792-013-9774-y
更新日期：2014-02-01 00:00:00
abstract：PURPOSE:The study aims to evaluate changes in neopterin levels and tryptophan degradation which are induced by Th1-type immune response and nitric oxide metabolism which may be involved in allergic inflammation. METHODS:Serum nitrite, kynurenine, tryptophan and neopterin levels were evaluated in 36 patients with seaso...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/s10792-017-0669-1
更新日期：2018-10-01 00:00:00
abstract：PURPOSE:To describe and analyze short-term posterior vitreous abnormalities following intravitreal ocriplasmin in eyes with symptomatic vitreomacular traction syndrome (VMT). METHODS:In this institutional, prospective and interventional study enrolled patients with symptomatic focal VMT syndrome treated with intravitr...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/s10792-019-01177-7
更新日期：2020-01-01 00:00:00
abstract：:I have developed two protective caps that fit on the viewing windows of the indirect ophthalmoscope. These caps contain filters that absorb the argon laser beam and protect the operator's eyes during endolaser treatment. ...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/BF00225937
更新日期：1986-04-01 00:00:00
abstract：PURPOSE:To determine whether there are angiographic differences among normal, preperimetric and advanced glaucoma eyes using indocyanine green angiography with SLO. This method was chosen because of its sensibility to detect peripapillary capillary vessels. METHODS:Scanning laser opthalmoscopy was preformed on normal ...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1023/a:1014431404096
更新日期：2001-01-01 00:00:00
abstract：:To investigate subconjunctival bevacizumab as an adjuvant in first-time glaucoma filtration surgery, we conducted a non-comparative, interventional case series, enrolling consecutive patients with uncontrolled primary glaucomas. All patients underwent trabeculectomy with mitomycin C and received a 1.25 mg subconjuncti...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/s10792-012-9704-4
更新日期：2013-12-01 00:00:00
abstract：:The effect of therapeutic ultrasound for the treatment of refractory glaucoma was evaluated in 44 patients by comparing average IOP curves measured before and 3-4 months after treatment. The insonification regime was standardized and the glaucoma medication in each individual patient was unchanged during IOP curve mea...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/BF00918000
更新日期：1992-09-01 00:00:00
abstract：PURPOSE:To evaluate the long-term safety and efficacy of Mycophenolate Mofetil (MMF) for the control of cystoid macular oedema (CMO) secondary to noninfectious uveitis (NU). METHODS:The medical records of 19 consecutive patients with inflammatory CMO treated with MMF were retrospectively reviewed. Patient demographics...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/s10792-008-9200-z
更新日期：2009-06-01 00:00:00
abstract：:We compared uveitis patients who attended a general eye clinic (n = 183) with those who attended the ophthalmology department of a university hospital (n = 550) to examine factors that affect the clinical statistics of uveitis outpatients. We observed that diabetic iritis and herpetic iritis were significantly more fr...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/s10792-009-9336-5
更新日期：2010-06-01 00:00:00
abstract：:Published data on growth rates of uveal melanomas and effects of treatment modalities raise important considerations. Dissemination from uveal melanomas starts after the tumour is larger than 7 mm diameter; growth from 7 to 10 mm diameter increases the risk of metastases incrementally to approximately 16%. Estimations...
journal_title：International ophthalmology
pub_type： 杂志文章,评审
doi：10.1007/BF00132688
更新日期：1995-01-01 00:00:00
abstract：:To evaluate the efficacy of 25-ga pars plana vitrectomy (PPV) and 25-ga PPV combined with phacoemulsification surgery for managing ciliary block (malignant) glaucoma. The medical records of 11 eyes, in nine consecutive patients with malignant glaucoma were retrospectively reviewed to determine the efficacy of 25-ga PP...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/s10792-014-9974-0
更新日期：2015-08-01 00:00:00
abstract：PURPOSE:To compare stage of visual field loss (VFL) and age at diagnosis between patients with different types of glaucoma with regard to glaucoma screening and driving ability. METHODS:In a cross-sectional study of 1988 consecutive patients with different types of glaucoma VFL at diagnosis and age at diagnosis were a...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/s10792-017-0477-7
更新日期：2018-04-01 00:00:00
abstract：:The aim of this study is to report the clinical outcome of a diabetic patient with optic nerve head neovascularization treated with an intravitreal injection of triamcinolone acetonide. A 52-year-old patient presented with clinically significant diffuse macular edema and optic nerve head neovascularization due to prol...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1023/b:inte.0000031740.85124.78
更新日期：2004-03-01 00:00:00
abstract：:We report our experience with three cases of Epstein-Barr virus (EBV)-associated uveitis. These patients had the following common clinical features: 1) a common cold-like prodrome, 2) bilateral involvement, 3) severe acute anterior uveitis with fibrinous exudate, 4) granulomatous anterior uveitis in the chronic stage,...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/BF00163559
更新日期：1990-10-01 00:00:00
abstract：:A 65-year-old woman with iridocorneal endothelial syndrome and a history of Ahmed glaucoma drainage (AGD) tube implantation underwent Descemet stripping automated endothelial keratoplasty (DSAEK) in her right eye. During the procedure, filling the anterior chamber with air was quite difficult due to escape of air via ...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/s10792-012-9603-8
更新日期：2012-12-01 00:00:00
abstract：:Sarcoidosis is a multisystem disease characterized by enhanced immune responses at sites of involvement. To elucidate the immunopathogenesis of ophthalmic lesions, cell infiltrates in biopsies from conjunctiva and other tissues involved (lungs, lymph nodes, skin) were studied in 26 patients with active sarcoidosis in ...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/BF00131162
更新日期：1990-01-01 00:00:00
abstract：PURPOSE:To evaluate the accuracy of an advanced manual corneal astigmatic marking method for toric intraocular lens (IOL) implantation. METHODS:From 52 patients, 52 eyes with cataracts and corneal astigmatism were included. The target axis of the toric IOL was marked with the new manual marking method preoperatively a...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/s10792-020-01498-y
更新日期：2020-11-01 00:00:00
abstract：:In 15 eyes with uncontrolled aphakic/pseudophakic glaucoma, trabeculectomy with anterior vitrectomy was performed. Mean pre-operative intraocular pressure (IOP) was 38.2 +/- 6.7 mmHg and mean post operative IOP was 19.3 +/- 5.2 mmHg after follow-up of 11.2 2 months. The anterior chamber maintainer technique during vit...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/BF00153920
更新日期：1991-05-01 00:00:00
abstract：BACKGROUND:Oncocytoma is rarely found around the lacrimal punctum. We describe a case of oncocytoma of the peripunctum. METHODS:Case report. RESULTS:An 88-year-old patient presented with a upper peripunctal mass in the left eye. The tumor was completely excised including the lacrimal punctum and part of the canalicul...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/s10792-006-9008-7
更新日期：2005-06-01 00:00:00
abstract：PURPOSE:To evaluate the accuracy of intraocular lens (IOL) power calculation in relation to optical biometry devices and refraction types. METHODS:Patients undergoing cataract phacoemulsification and insertion of the MX60 IOL were enrolled. Optical biometric measurements were performed with both IOLMaster 700 and Lens...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/s10792-020-01355-y
更新日期：2020-07-01 00:00:00
abstract：:A series of pathological conditions such as pupillary block glaucoma, angle block glaucoma, acoria, pupillary membranes and goniosynechias of various origins have been treated successfully by means of pulses emitted from a Nd:YAG Q-switched laser above optical breakdown threshold. Since linear absorption is not requir...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/BF00130696
更新日期：1981-05-01 00:00:00
abstract：PURPOSE:To evaluate one-year visual, refractive, and topographic outcomes of 58 eyes of 53 keratoconus patients who underwent surgery with a progressive thickness intrastromal corneal ring segment (ICRS). METHODS:This multi-center, retrospective, observational study evaluates the one-year effects of progressive thickn...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/s10792-020-01467-5
更新日期：2020-11-01 00:00:00
abstract：OBJECTIVE:To assess the comprehensive effects of raloxifene hydrochloride on retinal, choroidal and retrobulbar hemodynamics and on visual function in post-menopausal women. DESIGN:Twenty-four post-menopausal women (age 55 +/- 3.8 years) were recruited for this cross-sectional study: 12 received placebo and 12 receive...
journal_title：International ophthalmology
pub_type： 临床试验,杂志文章
doi：10.1007/s10792-008-9224-4
更新日期：2009-08-01 00:00:00
abstract：:In the original publication, first line of methods under the Abstract section was published incorrectly. ...
journal_title：International ophthalmology
pub_type： 已发布勘误
doi：10.1007/s10792-020-01327-2
更新日期：2020-04-01 00:00:00
