Abstract：
PURPOSE:To investigate various XLRS1 (RS1) gene mutations in Chinese families with X-linked juvenile retinoschisis (XLRS or RS). METHODS:Genomic DNA was isolated from leukocytes of 29 male patients with X-linked juvenile retinoschisis, 38 female carriers, and 100 normal controls. All 6 exons of the RS1 gene were amplified by polymerase chain reaction, and the RS1 gene mutations were determined by direct sequencing. RESULTS:Eleven different RS1 mutations in 12 families were identified in the 29 male patients. The mutations comprised eight missense, two frameshift, and one splice donor site mutation. Four of these mutations, one frameshift mutation (26 del T) in exon 1, one frameshift mutation (488 del G) in exon 5, Asp145His and Arg156Gly in exon 5, have not been previously described. One novel non-disease-related polymorphism, 576C to T (Pro192Pro) in exon 6, was also found. Six recurrent mutations, Ser73Pro and Arg102Gln mutations in exon 4 and Arg200Cys, Arg209His, Arg213Gln, and Cys223Arg mutations in exon 6, were also identified in this study. CONCLUSION:RS1 gene mutations caused X-linked juvenile retinoschisis in these Chinese families.
journal_name
Jpn J Ophthalmoljournal_title
Japanese journal of ophthalmologyauthors
Ma X,Li X,Wang Ldoi
10.1007/s10384-007-0488-4subject
Has Abstractpub_date
2008-01-01 00:00:00pages
48-51issue
1eissn
0021-5155issn
1613-2246journal_volume
52pub_type
杂志文章abstract：PURPOSE:To investigate effects of alertness on three-dimensional (3D) eye movements. METHODS:During drowsy and alert periods, 3D eye movements were recorded with dual search coils in three normal rhesus monkeys, and in two of these monkeys after placement of bilateral kainic acid lesions of the rostral interstitial nu...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0021-5155(00)00211-2
更新日期：2000-09-01 00:00:00
abstract：PURPOSE:The involvement of cytokines and chemokines in vitreous fluid is important in the development and progression of diabetic retinopathy (DR) and central retinal vein occlusion (CRVO). In this study, the concentrations of cytokines and chemokines in the vitreous fluid of eyes with DR and CRVO were measured and com...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-011-0004-8
更新日期：2011-05-01 00:00:00
abstract：BACKGROUND:Epidermal nevus syndrome encompasses a group of congenital neurocutaneous anomalies characterized by epidermal nevi in association with cerebral, ocular, and skeletal abnormalities. We report herein the case of a Japanese girl with epidermal nevus syndrome associated with complex ocular choristoma and discus...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-009-0760-x
更新日期：2010-01-01 00:00:00
abstract：PURPOSE:To report a patient with agenesis of both internal carotid canals who presented with incomplete oculomotor palsy with pupil sparing. METHODS:The incomplete oculomotor palsy was followed clinically, and the precise anatomical relation of the aneurysm to the subarachnoid oculomotor nerve was investigated during ...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-007-0481-y
更新日期：2007-11-01 00:00:00
abstract：:Long-term incubation of the lens of rainbow trout, a cold water fish, can be carried out at 0 degrees C, without altering its transparency. This is not possible in mammalian lenses. Rainbow trout lenses maintained their transparency with normal cation levels for 2.5 months in H10 medium, which is a simple balanced sal...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：
更新日期：1986-01-01 00:00:00
abstract：PURPOSE:To study the effects of epigenetic events on corneal barrier functions, we examined tight junctions (TJs), the most important factor in the barrier function of the cornea, by using in vitro and in vivo corneal trauma models. METHODS:We examined alteration of TJ-associated gene expression and corneal barrier fu...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-008-0524-z
更新日期：2008-05-01 00:00:00
abstract：PURPOSE:To report optical coherence tomography (OCT) findings of macular edema secondary to retinal arterial macroaneurysms. METHODS:Six eyes with retinal arterial macroaneurysms were retrospectively examined by OCT. All eyes had macular edema without massive macular hemorrhage. Fluorescein angiography was performed i...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-006-0347-0
更新日期：2006-09-01 00:00:00
abstract：PURPOSE:A prospective study was conducted to compare the effectiveness, safety, and stability of photorefractive keratectomy (PRK) and laser in situ keratomileusis (LASIK) for correction of low to moderate myopia. METHODS:Forty-five patients with a manifest refraction (PRK, -4.54 +/- 0.80; LASIK, -4.82 +/- 1.10) from ...
journal_title：Japanese journal of ophthalmology
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/s0021-5155(01)00406-3
更新日期：2001-09-01 00:00:00
abstract：:An 18-year-old Japanese boy with optic disk drusen associated with left central retinal artery occlusion was reported. Transient central blurred vision, possibly caused by central retinal artery spasm, was noticed as an initial symptom of optic disk drusen in the left eye. Prolonged and repeated spasm might have given...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：
更新日期：1982-01-01 00:00:00
abstract：:Three cases of medullated nerve fibers of the retina were seen. They had medullated nerve fibers in both the upper and lower quadrants of the temporal retina, whereby the temporal raphe of the retinal nerve fiber layer could be visualized. Some nerve fibers from the upper and lower quadrants crossed each other on the ...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：
更新日期：1987-01-01 00:00:00
abstract：PURPOSE:A national survey was conducted in Japan to analyze the clinical characteristics of pellucid marginal corneal degeneration (PMD). METHODS:A questionnaire was sent to all members of the Japan Cornea Society requesting demographic and clinical findings on PMD patients who had been examined between 2008 and 2010....
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章,多中心研究
doi：10.1007/s10384-016-0462-0
更新日期：2016-09-01 00:00:00
abstract：PURPOSE:To determine the morphological characteristics of the cornea in eyes with posterior corneal vesicles (PCV) determined by in vivo confocal microscopy (IVCM). In addition, to compare the morphological characteristics of the corneas of eyes with PCV to those of eyes with posterior polymorphous corneal dystrophy (P...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-016-0473-x
更新日期：2016-11-01 00:00:00
abstract：:The glycocalyx, present on the surface of the corneal epithelium, contains sialoglycoconjugates. The developmental change in the sialylated residues may be evaluated by examining the expression of the sialyltransferase mRNA. We examined the distribution of Gal beta 1,3GalNAc alpha 2,3-sialyltransferase mRNA in rat cor...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：
更新日期：1995-01-01 00:00:00
abstract：PURPOSE:To identify any possible determinants in the development of uveitis in leprosy patients. METHODS:Human leukocyte antigen (HLA) class I and II antigen, and HLA class II genotypings were analyzed among Japanese leprosy patients. Ninety-three unrelated Japanese leprosy patients (46 patients with a history of uvei...
journal_title：Japanese journal of ophthalmology
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/s0021-5155(98)00068-9
更新日期：1999-03-01 00:00:00
abstract：:For the past 30 years, I have worked as a physician-scientist in both the clinic and laboratory setting at a number of university medical schools. Encountering patients in the clinic for whom treatment was not available led me to the laboratory in an attempt to develop the appropriate treatment for future patients. Th...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章,评审
doi：10.1007/s10384-012-0165-0
更新日期：2012-09-01 00:00:00
abstract：:The morphological appearance and the quantitative analysis of the structure of the macular microvasculature were investigated in 33 normal subjects by fluorescein angiography and stereoscopic mapping techniques. The foveal capillary network was formed by the anastomosis of 4 to 6 groups of terminal arteriolar and veno...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：
更新日期：1985-01-01 00:00:00
abstract：PURPOSE:To describe the characteristics and clinical course of patients with active posterior syphilitic uveitis evaluated between 1991 and 2009. METHODS:Retrospective chart review. RESULTS:Thirteen patients with active posterior syphilitic uveitis were identified at a single institution. All were men, and all with a...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-011-0053-z
更新日期：2011-09-01 00:00:00
abstract：PURPOSE:Diabetes mellitus aggravates carotid occlusive disease, that can manifest as ocular ischemic syndrome (OIS). Ocular manifestations and visual prognosis of OIS in diabetic patients were retrospectively analyzed. METHODS:Twenty-three consecutive diabetic patients with OIS were divided into two groups according t...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0021-5155(98)00057-4
更新日期：1999-01-01 00:00:00
abstract：PURPOSE:To clarify the usefulness of measuring anterior chamber depth by the IOLMaster for early-stage assessment of the therapeutic effect of steroid pulse therapy in patients with Vogt-Koyanagi-Harada (VKH) syndrome with active uveitis. METHODS:Seven patients with VKH syndrome (three men and four women) participated...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-010-0843-8
更新日期：2010-09-01 00:00:00
abstract：PURPOSE:We evaluated central retinal thickness (CRT) in diabetic macular edema (DME) using two different spectral-domain (SD) optical coherence tomography (OCT) instruments: the Cirrus and Spectralis OCTs. METHODS:CRT was measured in 63 eyes of 32 patients with DME using both instruments on the same day. RESULTS:CRT ...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-011-0085-4
更新日期：2011-11-01 00:00:00
abstract：PURPOSE:To evaluate macular shape in normal eyes using swept-source optical coherence tomography (SS-OCT). STUDY DESIGN:Retrospective cross-sectional study. METHODS:We retrospectively evaluated 77 normal eyes of 48 subjects. Curvature of retinal pitment epithelium (RPE) and choroid/scleral interface (CSI) was measure...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-020-00721-8
更新日期：2020-03-01 00:00:00
abstract：:Inflammation induced by systemic injection of endotoxin can be a good model for endogenous uveitis since ocular inflammation is induced without manipulating the eye. We carried out morphological and biochemical studies in Lewis rats to evaluate the breakdown of the blood-ocular barrier following injection of endotoxin...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：
更新日期：1988-01-01 00:00:00
abstract：:Full-field electroretinograms (ERGs) provide a basis for establishing the diagnosis of widespread progressive forms of retinitis pigmentosa in early life even at a time when fundus abnormalities visible with the ophthalmoscope are minimal or absent. Patients characteristically show delays in rod or cone b-wave implici...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章,评审
doi：
更新日期：1987-01-01 00:00:00
abstract：:Purpose: To confirm the intraocular dynamics of 1% deuterium (D) labeled alpha-tocopheral acetate (VEA) solution.Methods: The concentrations of D(3)-VEA and D(3)-alpha-tocopherol (VE) derived from D(3)-VEA in the aqueous humor and lens were measured after instilling 1% D(3)-VEA continuously into the cul-de-sac of rat ...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0021-5155(00)00315-4
更新日期：2001-01-01 00:00:00
abstract：PURPOSE:To elucidate the characterization of intraocular pressure (IOP) spike after trabeculotomy, and after the combined procedure of phacoemulsification and aspiration (PEA) and intraocular lens (IOL) implantation. METHODS:Included in this study were 39 patients (53 eyes) with primary open-angle glaucoma with IOPs u...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0021-5155(01)00322-7
更新日期：2001-05-01 00:00:00
abstract：:S-antigen (S-Ag), a well characterized 45-kDa protein in the photoreceptor cells, induces predominantly T-cell-mediated autoimmune uveitis when injected into experimental animals. Recently, we have shown that native histone H3 protein derived from yeast (Saccharomyces cerevisiae), or a synthetic peptide that is homolo...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：
更新日期：1992-01-01 00:00:00
abstract：PURPOSE:To study proteomic changes in human lens epithelial cells (HLECs) exposed to 1800-MHz Global System for Mobile Communication (GSM)-like microwaves. METHODS:In three separate experiments, HLECs were exposed and sham-exposed (six dishes each) to 1800-MHz GSM-like radiation for 2 h. The specific absorption rates ...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-007-0483-9
更新日期：2007-11-01 00:00:00
abstract：PURPOSE:To describe the epidemiology and clinical outcomes of open globe injuries (OGIs) in Japan over 10 years, and examine preoperative factors influencing the visual prognosis after surgery. STUDY DESIGN:Retrospective, observational, multicenter case-series study. METHODS:Patients' data were entered into a compute...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章,多中心研究
doi：10.1007/s10384-018-0638-x
更新日期：2019-01-01 00:00:00
abstract：PURPOSE:To determine the relationship between apoptotic photoreceptor cell death and the duration of light exposure. METHODS:Ten-week-old male albino rats (Wistar strain) were dark-adapted for 2 days and then exposed to intense light for 12 hours, and 1, 2, 3, 7, 14, 21, and 28 days. The presence of apoptosis was conf...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0021-5155(99)00011-8
更新日期：1999-05-01 00:00:00
abstract：PURPOSE:Comparison of anterior chamber angle measurements using ultrasound biomicroscopy (UBM) and gonioscopy. METHODS:Five hundred subjects were evaluated for grading of angle width by the Shaffer method. UBM was done in the same group to document angle width, angle opening distance (AOD 500), and anterior chamber de...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-003-0004-4
更新日期：2004-01-01 00:00:00
