Abstract：
PURPOSE:To investigate mutations of causal genes in two affected male siblings of a Japanese family with suspected Leber congenital amaurosis (LCA) and to characterize the related clinical features. METHODS:After obtaining informed consent, genomic DNA was extracted from peripheral blood of the proband and his family members. Mutation screening was initially performed with microarrays. The PCR and direct sequencing were successively done for confirmation of mutation detected by microarray, and the two patients who are the subjects of this study were also clinically examined. RESULTS:Results of the microarray suggested deletion of exon 17 of RPGRIP1. Confirmation by PCR and direct sequencing following microarray analysis revealed that both siblings had homozygous deletion of exon 17 of the RPGRIP1 gene, while their unaffected parents were heterozygous carriers. Length of the deletion was 1339 bp including exon 17 at the position of c.2710+372_2895+76del1339. Clinical features of the two siblings showed nystagmus, poor visual acuity, hyperopia, and photophobia since early childhood; but there was no oculo-digital sign, vessel attenuation or RPE mottling from the mid-retina to the periphery. Full-field single flash ERG was recordable but 30 Hz flicker ERG was not detectable. CONCLUSIONS:Although the present patients did not show sufficient clinical findings as LCA, PCR findings and direct sequencing following microarray analysis confirmed that they were LCA. Genetic analyses are helpful for confirmation of clinical diagnosis.
journal_name
Jpn J Ophthalmoljournal_title
Japanese journal of ophthalmologyauthors
Suzuki T,Fujimaki T,Yanagawa A,Arai E,Fujiki K,Wada Y,Murakami Adoi
10.1007/s10384-014-0339-zsubject
Has Abstractpub_date
2014-11-01 00:00:00pages
528-35issue
6eissn
0021-5155issn
1613-2246journal_volume
58pub_type
杂志文章abstract：PURPOSE:To compare endothelial damage of the donor cornea in relation to the method of inserting the donor cornea into the recipient anterior chamber during Descemet-stripping automated endothelial keratoplasty (DSAEK). METHODS:Fifteen enucleated pig eyes were used. The donor corneoscleral buttons were mounted in an a...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-009-0713-4
更新日期：2009-09-01 00:00:00
abstract：:A case of bilateral retinoblastoma affecting both of a pair of dizygotic twins was reported. To our knowledge, there has been only one previous report of dizygotic twins, both affected, with this disease. The present twins had no family history of retinoblastoma. They were born prematurely as extremely low birth weigh...
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:Changes in optic disc and peripapillary structures associated with optic nerve edema in idiopathic intracranial hypertension (IIH), can be evaluated with spectral domain optical coherence tomography (SD-OCT). We aimed to evaluate the association between increased cerebrospinal fluid (CSF) opening pressure and c...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-020-00807-3
更新日期：2021-01-09 00:00:00
abstract：:The enzyme 2',3'-cyclic nucleotide 3'-phosphohydrolase (CNPase) is one of the important markers for myelin synthesis or demyelination. We measured the CNPase activities in the visual pathway tissues of Lewis strain rats with experimental allergic encephalomyelitis (EAE) induced by inoculation of myelin basic protein f...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：
更新日期：1986-01-01 00:00:00
abstract：OBJECTIVE:To examine using the folds of the retinal pigment epithelium (RPE) to diagnose Vogt-Koyanagi-Harada (VKH) disease. METHODS:Retrospective clinical review of 57 Japanese patients between July 2005 and April 2009. Optical coherence tomography (OCT), fundus photographs and fluorescein angiography (FA) were studi...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-012-0212-x
更新日期：2013-01-01 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：: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 evaluate the cycloplegic effect of mixed eye drops containing 0.5% tropicamide and 0.5% phenylephrine in myopic children, and to determine whether their efficacy was associated with their clinical characteristics. METHODS:Eighty-one myopic children (age, mean +/- SD, 11.0 +/- 1.5 years; mean spherical equiv...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-006-0400-7
更新日期：2007-03-01 00:00:00
abstract：PURPOSE:To develop a novel method for measuring tear break-up time (BUT) by continuously measuring higher order wavefront aberrations using a Hartmann-Shack (H-S) aberrometer. METHODS:Wavefront aberrations up to the sixth order for a 4-mm pupil were measured in six eyes of six normal subjects using an H-S aberrometer....
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-005-0289-6
更新日期：2006-03-01 00:00:00
abstract：PURPOSE:To evaluate the effects of topical latanoprost and timolol in combined therapy on retinal blood flow and tissue circulation in the optic nerve head (ONH) of the cynomolgus monkey. METHODS:Latanoprost (30 microL, 0.005%) was instilled once daily and timolol (30 microL, 0.5%) twice daily for 6 days into 1 eye, a...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0021-5155(99)00217-8
更新日期：2000-05-01 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：PURPOSE:To study the effect of cyclosporin (CsA) on steroid-induced cataracts in patients following renal transplantation. METHODS:The subjects comprise 140 patients who had undergone renal transplantation at Kanazawa Medical Hospital. These subjects had received ophthalmologic examinations prior to their surgery and ...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0021-5155(03)00020-0
更新日期：2003-05-01 00:00:00
abstract：PURPOSE:To evaluate the relationship between visual disability and visual scores in patients with retinitis pigmentosa. METHODS:The relationship between visual disability and visual scores (visual acuity and visual field) was investigated in 93 patients with retinitis pigmentosa. The visual disability of each patient ...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0021-5155(99)00171-9
更新日期：2000-01-01 00:00:00
abstract：:Ca movements in mechanical responses of the isolated sphincter and dilator muscles of the rabbit iris to some drugs were studied. D600, a Ca-blocker, was practically ineffective in doses which relax the vascular and intestinal smooth muscles, while other smooth muscle relaxants were effective on the iris muscles in th...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：
更新日期：1983-01-01 00:00:00
abstract：PURPOSE:To determine whether exposure to ozonated solution alters the morphology of corneal endothelial cells in rats and to examine the protective effect of ascorbic acid. METHODS:The anterior chambers of rat eyes were filled with 4 ppm of ozonated solution. Some were left in that state, while others were flushed out...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-008-0629-4
更新日期：2009-03-01 00:00:00
abstract：PURPOSE:Defensins are antimicrobial peptides and are classified into three groups, alpha-, beta- and theta-defensins. We investigated the localization of human neutrophil peptides (HNP) 1-3, which are members of the alpha-defensin subfamily, and the expression of human beta-defensin 1 (hBD-1) and hBD-2 in the ocular su...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-004-0163-y
更新日期：2005-03-01 00:00:00
abstract：PURPOSE:To measure choroidal thickness in healthy pregnant women using enhanced depth imaging optical coherence tomography (EDI-OCT) and compare the measurements with those of healthy non-pregnant women. METHODS:Choroidal thickness was measured at the fovea and at 3 mm superior, inferior, temporal, and nasal to the fo...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-013-0265-5
更新日期：2013-09-01 00:00:00
abstract：PURPOSE:To compare the detection of localized retinal nerve fiber layer (RNFL) defects by two different spectral domain optical coherence tomography (SD-OCT) devices. METHODS:Eyes of 42 normal control subjects and 48 patients with a localized RNFL defect on red-free fundus photographs were imaged by the Cirrus (Carl Z...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-013-0239-7
更新日期：2013-07-01 00:00:00
abstract：PURPOSE:To investigate the recovery of short-wavelength sensitivity in patients who had undergone successful reattachment of a rhegmatogenous retinal detachment with macular involvement. METHODS:Postoperative assessment of the visual acuity and the visual fields by standard achromatic automated perimetry (SAP), and sh...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-005-0201-4
更新日期：2005-07-01 00:00:00
abstract：PURPOSE:To verify the advantages of trabeculotomy combined with phacoemulsification, intraocular lens implantation and sinusotomy (PTOS) in eyes with exfoliation glaucoma (XFG) and a coexisting cataract. PATIENTS AND METHODS:Sixty-six eyes of 62 Japanese XFG patients that received either PTOS, phacotrabeculectomy (PTE...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-011-0024-4
更新日期：2011-05-01 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 perform a retrospective study to evaluate the long-term outcome of systemic cyclosporine treatment as an adjunct to topical corticosteroid treatment after penetrating keratoplasty (PKP). METHODS:Twenty-six high-risk patients (27 eyes) who received systemic cyclosporine following PKP for an average of 5.4 mo...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0021-5155(01)00339-2
更新日期：2001-07-01 00:00:00
abstract：:The superior colliculus (SC) plays an important role in the transformation of visual and auditory signals into motor commands to generate saccadic eye movements toward the targets. This study investigated the synaptic input patterns from the SC, into vertical eye movement-related superior and inferior rectus motoneuro...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：
更新日期：1994-01-01 00:00:00
abstract：PURPOSE:To study the effects of antiglaucoma eye drops on N-methyl-D-aspartate (NMDA)-induced retinal damage. METHODS:Several antiglaucoma eye drops, beta-blockers, alpha/beta-blockers, an alpha1-blocker, an alpha2-agonist, and a prostaglandin derivative, were topically administrated to NMDA-treated rat eyes daily for...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-005-0253-5
更新日期：2005-11-01 00:00:00
abstract：:A newly developed model of keratoepithelioplasty (KEP) in the rat was used to analyze the effect of anterior chamber-associated immune deviation on the suppression of corneal allograft rejection. The right eyes of Fisher rats received an anterior chamber (AC) injection of lymphocyte suspension from Dark Agouti (DA) ra...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：
更新日期：1994-01-01 00:00:00
abstract：PURPOSE:This study was performed to assess the impact of dry eye on patients' quality of life (QOL) and to analyze the association between subjective symptoms and ocular surface findings of dry eye. METHODS:The study population consisted of 158 patients with dry eye aged 20 years or older who visited any of the 15 med...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章,多中心研究
doi：10.1007/s10384-010-0812-2
更新日期：2010-07-01 00:00:00
abstract：BACKGROUND:Ophthalmologists should be aware of the signs and symptoms of anthrax, although it is a rare disease in humans. We report our successful treatment of three patients with cutaneous lesions in the periorbital area. CASES:In this study, we report on the treatment of three female patients who were initially dia...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-003-0047-6
更新日期：2004-05-01 00:00:00
abstract：PURPOSE:To examine the correlation between the van Herick system and the Shaffer system in a large-scale epidemiological survey conducted on healthy Japanese subjects. METHODS:The van Herick technique was performed on 14,779 subjects aged 40 years and over who participated in an ophthalmic epidemiological survey condu...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1007/s10384-004-0169-5
更新日期：2005-03-01 00:00:00
abstract：PURPOSE:Topical mitomycin C (MMC) administration is reportedly effective in treating ocular surface neoplasms such as squamous cell carcinoma. We treated a case of ocular epithelial dysplasia that had spread too diffusely to be completely removed. We examined the ultrastructure of and c-met (hepatocyte growth factor re...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0021-5155(00)00270-7
更新日期：2000-11-01 00:00:00
abstract：:A nationwide, multicenter study of typical retinitis pigmentosa (RP) was carried out in collaboration with 18 hospitals throughout Japan to obtain current information for genetic counseling. We analyzed the genetic heterogeneity of RP based on the parental consanguinity of 434 probands registered during a 6-month peri...
journal_title：Japanese journal of ophthalmology
pub_type： 杂志文章,多中心研究
doi：10.1016/s0021-5155(96)00018-4
更新日期：1997-01-01 00:00:00
