Abstract:
PURPOSE:Leber congenital amaurosis (LCA) is an inherited retinal disease that causes early-onset severe visual impairment. To evaluate the mutation spectrum in the Chinese population, we performed a mutation screen in 145 Chinese LCA families. METHODS:First, we performed direct Sanger sequencing of 7 LCA disease genes in 81 LCA families. Next, we developed a capture panel that enriches the entire coding exons and splicing sites of 163 known retinal disease genes and other candidate retinal disease genes. The capture panel allowed us to quickly identify disease-causing mutations in a large number of genes at a relatively low cost. Thus, this method was applied to the 53 LCA families that were unsolved by direct Sanger sequencing of 7 LCA disease genes and an additional 64 LCA families. Systematic next-generation sequencing (NGS) data analysis, Sanger sequencing validation, and segregation analysis were used to identify pathogenic mutations. RESULTS:Homozygous or compound heterozygous mutations were identified in 107 families, heterozygous autosomal dominant mutations were identified in 3 families and an X-linked mutation was found in 1 family, for a combined solving rate of 76.6%. In total, 136 novel pathogenic mutations were found in this study. In combination with two previous studies carried out in Chinese LCA patients, we concluded that the mutation spectrum in the Chinese population is distinct compared to that in the European population. After revisiting, we also refined the clinical diagnosis of 10 families based on their molecular diagnosis. CONCLUSIONS:Our results highlight the importance of a molecular diagnosis as an integral part of the clinical diagnostic process.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Wang H,Wang X,Zou X,Xu S,Li H,Soens ZT,Wang K,Li Y,Dong F,Chen R,Sui Rdoi
10.1167/iovs.14-15972subject
Has Abstractpub_date
2015-06-01 00:00:00pages
3642-55issue
6eissn
0146-0404issn
1552-5783pii
2319022journal_volume
56pub_type
杂志文章abstract:Purpose:To test the amblyopic suppression at mid to low spatial frequencies when compensating for signal attenuation. Methods:Eight amblyopes with (n = 5) or without (n = 3) strabismus and 10 normal controls with normal or corrected to normal visual acuity (≥20/20) and normal stereopsis (≤40 arcseconds) participated. ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.18-24206
更新日期:2018-08-01 00:00:00
abstract:PURPOSE:To calculate the relative amount of hemoglobin (Hb) in sectors of the optic nerve head (ONH) from stereoscopic color fundus images using the Laguna ONhE method and compare the results with the visual field evaluation and optical coherence tomography (OCT). METHODS:Healthy eyes (n = 87) and glaucoma eyes (n = 7...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.14-15592
更新日期:2015-02-10 00:00:00
abstract:PURPOSE:To test whether in an animal model of proliferative vitreoretinopathy (PVR) the Müller glial cells displayed an upregulation of purinergic P2 receptor-mediated responses. METHODS:PVR was induced by intravitreal injection of the proteolytic enzyme, dispase, in the eyes of adult rabbits. The developing PVR was e...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:2002-03-01 00:00:00
abstract:PURPOSE:Glaucoma is an optic neuropathy commonly associated with elevated intraocular pressure (IOP), leading to optic nerve head (ONH) cupping, axon loss, and apoptosis of retinal ganglion cells (RGCs), which could ultimately result in blindness. Brn3b is a class-4 POU domain transcription factor that plays a key role...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.14-15008
更新日期:2015-01-13 00:00:00
abstract:PURPOSE:To study pathologic changes in the photoreceptors in eyes with idiopathic macular telangiectasia (MacTel) type 2 using adaptive optics scanning laser ophthalmoscopy (AO-SLO). METHODS:Thirteen eyes with nonproliferative MacTel type 2 and 10 normal eyes underwent a full ophthalmologic examination, spectral-domai...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.11-7251
更新日期:2011-07-25 00:00:00
abstract:PURPOSE:The purpose of this study was to develop a murine model of allergic conjunctivitis induced by house dust mite (HDM) extract from Dermatophagoides pteronyssinus, a major allergen in humans. METHODS:Forty BALB/c mice were divided into five groups, immunized with placebo, ovalbumin (10 μg), or HDM extract followi...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.15-17340
更新日期:2016-04-01 00:00:00
abstract:PURPOSE:Previous studies have demonstrated that in 129alpha3Cx46-/- mice, age-related nuclear cataract is formed. In the present study, a more in vivo-relevant model was generated to test the hypothesis that the calpain 3 gene is involved in age-related nuclear cataractogenesis in alpha3Cx46 knockout mice. METHODS:To ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.06-0926
更新日期:2007-06-01 00:00:00
abstract:PURPOSE:Weak eye muscles can cause ophthalmic disorders, and in particular, strabismus. Exogenous trophic factors such as cardiotrophin (CT)-1 and insulin-like growth factor (IGF) have been shown to increase the contractile force of adult heart and skeletal muscles, respectively. In the current study, the effects of en...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.04-0393
更新日期:2004-10-01 00:00:00
abstract:PURPOSE:There is uncertainty in the published literature as to whether physical activity should be advocated for age-related macular degeneration (AMD) prevention. We aimed to assess prospectively the association between physical activity and the 15-year incidence of AMD in older adults. METHODS:We assessed AMD from r...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.14-15575
更新日期:2014-11-11 00:00:00
abstract::In vivo conjunctival epithelial healing in albino rabbits was investigated by light microscopy following both n-heptanol and trephined conjunctival wounding. Reepithelialization occurred faster following n-heptanol treatment (3 days) versus trephination (6-7 days). No goblet cells were present in the migrating epithel...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1984-07-01 00:00:00
abstract::Protocols for light microscopy of frog lenses that result in good visibility of cell structure from the lens surface to its nucleus are presented. The lenses are fixed in 10% neutral formalin in 0.06 M phosphate buffer and are embedded in Epon 812. Following staining of the thick sections with selected Procion dyes, e...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1983-09-01 00:00:00
abstract:PURPOSE:To determine the roles played by toll-like receptor 9 (TLR9) in cultured human corneal endothelial (HCEn) cells after herpes simplex virus type 1 (HSV-1) infection and to characterize the TLR9-mediated antiviral responses. METHOD:Immortalized HCEn cells were examined for TLR expression. The upregulation of inf...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.11-7805
更新日期:2011-08-24 00:00:00
abstract:PURPOSE:To identify the distribution of creatine transporter (CRT) in the aged human retina and how this expression pattern is modified after retinal detachment. METHODS:An affinity-purified antibody raised against the CRT was used in the immunohistochemical investigation. The anti-CRT antibody was colocalized with ne...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.11-8462
更新日期:2012-04-18 00:00:00
abstract:PURPOSE:To determine the efficacy of a new formulation of topical dexamethasone 0.1%/povidone-iodine 0.4% (FST-100) in reducing clinical symptoms and infectious viral titers in a rabbit model of adenoviral keratoconjunctivitis. METHODS:Rabbit corneas were inoculated bilaterally with 2×10(6) plaque-forming-units (PFU) ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.10-5944
更新日期:2011-01-21 00:00:00
abstract:PURPOSE:To define the retinal phenotype in patients with the Bardet-Biedl syndrome and mutations in the BBS1 gene. METHODS:Ten patients (age range, 16-48 years), representing eight pedigrees, with BBS1 gene mutations were studied clinically and with kinetic perimetry, chromatic static perimetry, electroretinography (E...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.06-0517
更新日期:2006-11-01 00:00:00
abstract:Purpose:Suppression in amblyopia may be an unequal form of normal interocular suppression or a distinct pathophysiology. To explore this issue, we examined the orientation tuning and contrast dependence of continuous flash suppression (CFS) in adults with amblyopia and visually normal controls. Methods:Nine patients (...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.18-23954
更新日期:2018-11-01 00:00:00
abstract:Purpose:Diabetes leads to the downregulation of the retinal Kir4.1 channels and Müller cell dysfunction. The insulin receptor substrate-1 (IRS-1) is a critical regulator of insulin signaling in Müller cells. Circadian rhythms play an integral role in normal physiology; however, diabetes leads to a circadian dysrhythmia...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.18-26045
更新日期:2019-05-01 00:00:00
abstract:PURPOSE:To investigate the role of nitric oxide synthase (NOS) in photoreceptor degeneration associated with photodynamic therapy (PDT) in a laser-induced model of choroidal neovascularization (CNV). METHODS:PDT was performed in monkey and Brown Norway rats with laser-induced CNV. L-NAME, a NOS inhibitor, or saline wa...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.06-0979
更新日期:2007-05-01 00:00:00
abstract:PURPOSE:The anatomy of individual myofibers within the orbicularis oculi muscle was examined to determine individual myofiber lengths in the different regions of the muscle. A wide variety of eyelid conditions require eyelid surgery or drug injections directly into the eyelid. Knowledge of regional myofiber anatomy and...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1996-08-01 00:00:00
abstract:PURPOSE:To assess the impact of zinc finger E-box binding homeobox 1 (ZEB1) gene mutations associated with posterior polymorphous corneal dystrophy 3 (PPCD3) and Fuchs' endothelial corneal dystrophy (FECD). METHODS:Thirteen of the 27 previously reported ZEB1 truncating mutations associated with PPCD3 and the six previ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.14-15247
更新日期:2014-09-04 00:00:00
abstract:PURPOSE:This study was designed to examine whether retinal function can be rescued by allogeneic normal retinal pigment epithelial (RPE) grafts in Royal College of Surgeons (RCS) with retinal degeneration and, if so, whether this rescued function can be measured and followed by recording the corneal electroretinogram (...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1994-12-01 00:00:00
abstract:Purpose:To evaluate the corneal endothelial characteristics across the primary angle closure (PAC) disease spectrum amongst patients diagnosed as PAC suspects (PACS), PAC, PAC glaucoma (PACG), and previous acute PAC (APAC). Methods:We analyzed a total of 529 subjects (51 PACS, 170 PAC, 234 PACG, and 74 with previous A...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.18-24939
更新日期:2018-09-04 00:00:00
abstract:PURPOSE:We showed previously that single nucleotide polymorphism (SNP) rs662702 in PAX6 may be located in a microRNA-328 binding site that causes susceptibility to high myopia. Our study was done to elucidate the role of PAX6 and its relationship with microRNA-328 in myopia. METHODS:A luciferase assay was used to conf...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.11-9272
更新日期:2012-05-31 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.05-0723
更新日期:2005-12-01 00:00:00
abstract:PURPOSE:To investigate the mechanism of the neuroprotective effects of the angiotensin II type 1 receptor (AT1-R) blocker against retinal ischemia-reperfusion injury in the rat. METHODS:Retinal ischemia was induced by increasing intraocular pressure. Glutamate release from the rat retina and intravitreal PO(2) (partia...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.11-9167
更新日期:2012-06-26 00:00:00
abstract:Purpose:Vascular endothelial growth factor receptor 2 (VEGFR2) plays a key role in VEGF-induced angiogenesis. The goal of this project was to test the hypothesis that editing genomic VEGFR2 loci using the technology of clustered regularly interspaced palindromic repeats (CRISPR)-associated DNA endonuclease (Cas)9 in St...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.16-20537
更新日期:2017-02-01 00:00:00
abstract:PURPOSE:To assess alterations in allergic ocular responses to nonparasite antigens in an experimental system in which mice were skewed toward a Th2 cytokine profile by helminth infection. METHODS:Mice were inoculated with Ascaris suum (A. suum) eggs concurrent with ragweed (RW) sensitization (RW/acute) or by repeated ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.04-0899
更新日期:2005-08-01 00:00:00
abstract:PURPOSE:To examine the rate of retinal ganglion cell (RGC) layer and retinal nerve fiber layer (RNFL) changes in nonoptic neuritis (NON) eyes of relapsing remitting multiple sclerosis (RRMS) patients, and to find a specific imaging parameter useful for identifying disease progression. METHODS:Forty-five consecutive RR...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.15-19047
更新日期:2016-04-01 00:00:00
abstract:PURPOSE:To determine the metrics of vertical saccades in elderly subjects for comparison in neurologic disease. METHODS:Sixteen elderly subjects, ten middle-aged subjects, and thirteen young subjects were examined using a magnetic search coil technique. Saccades were measured to predictable vertical target steps and m...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1993-07-01 00:00:00
abstract::A monoclonal antibody, 4G10.3, was developed that preferentially binds limbal basal cells in adult rat, rabbit, and human corneas. These cells were hypothesized to be the stem cells for the corneal epithelium. The antibody 4G10.3 was localized by immunofluorescence microscopy in rats 1 d and 1, 1.5, 2, 3, 4, and 6 wk ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1992-06-01 00:00:00