Abstract：
PURPOSE:To describe the clinical and genetic characteristics of three Japanese families with autosomal dominant retinitis pigmentosa (ADRP) associated with mutations in the PRPF31 gene. DESIGN:Case reports and results of DNA analysis. METHODS:Mutational screening of the PRPF31 gene was performed on 96 unrelated patients with ADRP by direct sequencing. The clinical features were characterized by complete ophthalmologic examinations. RESULTS:Three mutations in the PRPF31 gene, designated as 1142delG, 1155-1159delGGACG/insAGGGATT, and IVS6 to 3 to -45del, were identified in three unrelated Japanese families with ADRP. The 1142delG and 1155-1159delGGACG/insAGGGATT mutations are novel. The phenotype of affected family members was typical of retinitis pigmentosa (RP). Additionally, we identified asymptomatic obligate carriers. CONCLUSIONS:The 1142delG and 1155-1159delGGACG/insAGGGATT mutations in the PRPF31 gene cause RP. The prevalence of mutations in the PRPF31 gene in Japanese patients with ADRP is approximately 3%. However, it is important to note that there are asymptomatic obligate carriers.
journal_name
Am J Ophthalmoljournal_title
American journal of ophthalmologyauthors
Sato H,Wada Y,Itabashi T,Nakamura M,Kawamura M,Tamai Mdoi
10.1016/j.ajo.2005.02.050subject
Has Abstractpub_date
2005-09-01 00:00:00pages
537-40issue
3eissn
0002-9394issn
1879-1891pii
S0002-9394(05)00273-4journal_volume
140pub_type
杂志文章abstract：PURPOSE:To measure peripapillary retinal nerve fiber layer volume in normal subjects and patients with ocular hypertension, primary open-angle glaucoma, and low-tension glaucoma. METHODS:Sixty-five subjects were classified into four groups of normal subjects and subjects with ocular hypertension, primary open-angle gl...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(99)00464-x
更新日期：2000-05-01 00:00:00
abstract：PURPOSE:To evaluate clinically a recently developed confocal scanning laser ophthalmoscope for simultaneous fluorescein and indocyanine green angiography. METHODS:After comprehensive ophthalmic examination, including stereoscopic biomicroscopy, and after color fundus photographs, simultaneous confocal scanning laser f...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(99)80095-6
更新日期：1998-02-01 00:00:00
abstract：:Three patients developed anisocoria as a result of third nerve palsies caused by intracranial lesions: two in the cavernous sinus and one in the mesencephalon. Pharmacologic testing using low concentration pilocarpine showed apparent preganglionic parasympathetic supersensitivity of the abnormal pupil. These findings ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(87)90231-5
更新日期：1987-10-15 00:00:00
abstract：:Eikenella corrodens is a gram-negative, facultative anaerobic bacillus with specific culture and growth requirements and unusual antibacterial susceptibilities. It has only recently been recognized as a human pathogen. Ocular and adnexal infections with this organism are rare especially in children. We treated two chi...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)74487-3
更新日期：1992-11-15 00:00:00
abstract：:We used wide-field color specular microscopy of the human corneal surface to study the morphologic changes that occur under extended-wear contact lenses. There was a shift in the frequency distribution of surface cells by size to larger cells, suggesting a prolonged residence time on the ocular surface. Other abnormal...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(86)90818-4
更新日期：1986-03-15 00:00:00
abstract：:We combined a recession or resection of recti muscles with a vertical or horizontal transposition to correct a complicated paralytic ocular deviation in eight patients. The transposed muscles were reattached to the globe parallel to the spiral of Tillaux and adjacent to the paralyzed muscle. Postoperatively, seven pat...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)72313-x
更新日期：1991-03-15 00:00:00
abstract：:Subretinal neovascularization was demonstrated in a subhuman primate eye (Macaca speciosa) one year after the internal carotid injection of yeast-phase Histoplasma capsulatum. In this animal model of ocular histoplasmosis, initial injection of viable H. capsulatum results in the development of self-limiting acute mult...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(85)90790-1
更新日期：1985-08-15 00:00:00
abstract：:We compared the intraocular pressure-decreasing effect of timolol maleate alone, acetazolamide alone, and combined timolol and acetazolamide therapy in nine patients with bilateral chronic open-angle glaucoma. Timolol decreased intraocular pressure at least as effectively as acetazolamide. The two medications together...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)75631-4
更新日期：1981-12-01 00:00:00
abstract：PURPOSE:To determine the safety of pars plana vitrectomy in eyes containing a treated posterior uveal melanoma. DESIGN:Interventional case series. METHODS:Retrospective case series of patients with posterior uveal melanoma who underwent pars plana vitrectomy. Complications, vitreous cytology, local tumor control, and...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(03)00244-7
更新日期：2003-09-01 00:00:00
abstract：PURPOSE:To determine novel diagnostic parameters for keratoconus, and to assess the correlation between anterior and posterior corneal surfaces based on vectorial astigmatism analyses. DESIGN:Retrospective case-control study. METHODS:Six hundred and ninety-eight eyes of 698 patients were enrolled in the study. Health...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2016.04.008
更新日期：2016-07-01 00:00:00
abstract：PURPOSE:To report the results and complications of an aspiration cutter-assisted anterior segment tumor biopsy performed under viscoelastic. DESIGN:Retrospective, consecutive, interventional case series. METHODS:Fifty-five patients with anterior segment tumors underwent aspiration cutter-assisted biopsy at a single c...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2011.04.032
更新日期：2011-11-01 00:00:00
abstract：PURPOSE:To report a novel mutation of the CYP1B1 gene in a Japanese patient with primary infantile glaucoma. METHODS:DNA was extracted from leukocytes of six unrelated patients with primary infantile glaucoma. The coding regions of the CYP1B1 gene were amplified by polymerase chain reaction, examined by agarose gel se...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(99)00143-9
更新日期：1999-09-01 00:00:00
abstract：PURPOSE:Although the association of cystoid macular edema with peripheral choroidal melanoma has been studied previously, the pathogenesis of cystoid macular edema as evaluated by light and electron microscopy remains controversial. We evaluated the cause of cystoid macular edema at the retinal capillary level. METHOD...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)73867-x
更新日期：1995-02-01 00:00:00
abstract：PURPOSE:To determine whether higher-order aberrations can explain the monocular diplopia reported by a patient. DESIGN:Observational case report. METHODS:A patient complaining of monocular diplopia was examined with the Hartmann-Shack aberrometer to determine if the higher-order wavefront aberrations could account fo...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2005.12.040
更新日期：2006-06-01 00:00:00
abstract：:We re-assessed nine patients (aged 2 to 28 years) in whom true Brown's syndrome had been diagnosed and superior oblique muscle tenotomy performed. The postoperative period ranged from three to 12 years. The final results were divided into three groups: (1) Patients with partial residual Brown's syndrome postoperativel...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(80)90173-7
更新日期：1980-06-01 00:00:00
abstract：PURPOSE:To report atypical kerato-conjunctivitis as a manifestation of Hodgkin disease. METHODS:Case report. RESULTS:A 19-year old woman presented with conjunctival nodules and corneal infiltrates. Diffuse lymph node enlargement occurred, but not in the preauricular or submandibular areas. Extensive microbiologic exa...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(00)00895-3
更新日期：2001-06-01 00:00:00
abstract：PURPOSE:To evaluate the effect of contact lens (CL) wear and visual display terminal (VDT) work on the ocular surface and tear functions. DESIGN:Prospective case-control study. METHODS:Sixty-nine CL wearers (45 women and 24 men; mean age, 35.2 ± 7.3 years), and 102 age- and sex-matched non-CL wearers were enrolled in...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2011.05.025
更新日期：2011-12-01 00:00:00
abstract：PURPOSE:To report a case of neonatal orbital ganglioglioma originating from ectopic neural tissue. METHOD:Case report. RESULTS:An African-American male presented at birth with proptosis and expansion of the left orbit. A discrete soft-tissue mass was located inferolateral to the globe, which proved to be a gangliogli...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(99)00288-3
更新日期：2000-01-01 00:00:00
abstract：:During a two-year period a randomly selected age-stratified sample of subjects 65 years old and older living in Gisborne, New Zealand, was examined by an ophthalmologist to investigate visual acuity and the prevalence of the major disorders of vision in old age. A total of 481 subjects (a response rate of 86.2%) compl...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(82)90073-3
更新日期：1982-08-01 00:00:00
abstract：PURPOSE:To train a deep learning (DL) algorithm that quantifies glaucomatous neuroretinal damage on fundus photographs using the minimum rim width relative to Bruch membrane opening (BMO-MRW) from spectral-domain optical coherence tomography (SDOCT). DESIGN:Cross-sectional study. METHODS:A total of 9282 pairs of opti...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2019.01.011
更新日期：2019-05-01 00:00:00
abstract：:Subconjunctival 5-fluorouracil has been an effective adjunct in glaucoma filtering surgery. We investigated the effectiveness of 5-fluorouracil in primary trabeculectomy combined with phacoemulsification and posterior chamber intraocular lens implantation (glaucoma triple procedure). Seventy-four patients were enrolle...
journal_title：American journal of ophthalmology
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/s0002-9394(14)73202-7
更新日期：1993-11-15 00:00:00
abstract：:Nonaccommodative convergence excess is a condition in which a patient has orthotropia or a small-angle esophoria or esotropia at distance and a large-angle esotropia at near, not significantly reduced by the addition of spherical plus lenses. The AC/A ratio, determined with the gradient method, is normal or subnormal....
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(86)90466-6
更新日期：1986-01-15 00:00:00
abstract：PURPOSE:To quantify ocular higher-order aberrations (HOAs) in eyes with supernormal vision, that is, natural uncorrected visual acuity (UCVA) > or = 20/15, to analyze the correlation between ocular HOAs and age in these eyes, and to investigate the correlation of HOAs between right and left eyes. DESIGN:Observational ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2004.08.035
更新日期：2005-02-01 00:00:00
abstract：PURPOSE:To evaluate microbiota colonizing soft contact lenses (CL) in eyes with Boston type I keratoprosthesis (BKPro), and determine the prevalence of resistance to fourth-generation fluoroquinolone (FQ). DESIGN:Prospective, observational study. SUBJECTS:Patients with BKPro using CL as routine who were in postoperat...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2018.05.021
更新日期：2018-08-01 00:00:00
abstract：:A 32-year-old obese woman with hypertension and a three-year history of pseudotumor cerebri developed bilateral juxtapapillary subretinal neovascular membranes. To our knowledge, this is the first reported case of bilateral subretinal neovascular membranes complicating the course of this disease. The subretinal neovas...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(81)90282-8
更新日期：1981-03-01 00:00:00
abstract：PURPOSE:To report a case of horizontal diplopia after a four-lid blepharoplasty. DESIGN:Observational and interventional case report. METHODS:Analysis of the history and management of a 64-year-old man who underwent a four-lid blepharoplasty, after which he developed horizontal diplopia. RESULTS:The patient was foun...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2005.11.045
更新日期：2006-04-01 00:00:00
abstract：PURPOSE:To determine whether ocular phenotypic features of keratoconjunctivitis sicca (KCS) and/or participant-reported symptoms of dry eye disease are associated with depression in women participants enrolled in the Sjögren's International Collaborative Clinical Alliance (SICCA). DESIGN:Cross-sectional study. METHOD...
journal_title：American journal of ophthalmology
pub_type： 杂志文章,多中心研究
doi：10.1016/j.ajo.2018.04.004
更新日期：2018-07-01 00:00:00
abstract：:A 55-year-old woman developed a skin rash and lipid deposition centrally in previously normal corneas. Despite a family history of coronary artery disease, no serum lipid abnormality was detected. Lipid droplets and granules were deposited throughout the corneal epithelium and stroma. Histochemical stains were positiv...
journal_title：American journal of ophthalmology
pub_type： 临床试验,杂志文章
doi：10.1016/0002-9394(77)90496-2
更新日期：1977-12-01 00:00:00
abstract：:Beta-aminopropionitrile, an inhibitor of collagen cross-linking, effectively limited the degree of posttraumatic vitreous proliferation in rabbits three weeks after double perforating injury. Light microscopic examination of the sites of perforating injury after five weeks showed minimal intravitreal fibrous prolifera...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(83)90337-9
更新日期：1983-01-01 00:00:00
abstract：PURPOSE:To report long-term anatomical and functional results after pars plana vitrectomy with peeling of the internal limiting membrane (ILM) for idiopathic macular hole. DESIGN:Prospective, nonrandomized, consecutive series. METHODS:Ninety-nine patients with a follow-up of at least 12 months were included. The surg...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(02)01751-8
更新日期：2002-11-01 00:00:00
