Abstract:
:Fabry's disease is a rare X-linked lysosomal storage disorder of glycosphingolipid (GL) metabolism, caused by a deficiency of alpha-galactosidase A activity. The progressive accumulation of GL in tissues results in the clinical manifestations of the disease, that are more evident in hemizygous males, and include angiokeratomas, acroparesthesia, cornea verticillata, cardiac and kidney involvement, cerebrovascular manifestations. A family with Fabry's disease including 2 female patients and 3 male patients is reported. The patients were submitted to complete medical history, ophthalmological examination and alpha-galactosidase activity test. Cornea verticillata was a constant finding in all patients. This demonstrates the important role of the ophtalmological examination for the diagnosis of Fabry's disease since the eye findings are so characteristic of the disease.
journal_name
Arq Bras Oftalmoljournal_title
Arquivos brasileiros de oftalmologiaauthors
Cordeiro CA,Oréfice F,Lasmar EP,Santos HH,Valadares ERdoi
10.1590/s0004-27492007000400024subject
Has Abstractpub_date
2007-07-01 00:00:00pages
701-5issue
4eissn
0004-2749issn
1678-2925pii
S0004-27492007000400024journal_volume
70pub_type
杂志文章abstract:PURPOSE:To investigate the relationship between quantitative iris parameters and the presence of keratoconus. METHODS:Cross-sectional observational study that included 15 affected eyes of 15 patients with keratoconus and 26 eyes of 26 normal age- and sex-matched controls. Iris parameters (area, thickness, and pupil di...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.5935/0004-2749.20150080
更新日期:2015-09-01 00:00:00
abstract:PURPOSE:To evaluate the effectiveness in in-traocular pressure reduction and safety of micropulse trans-scleral diode cyclophotocoagulation in refractory glaucoma. METHODS:We prospectively evaluated a case series of 21 eyes of 21 consecutive patients with refractory glaucoma treated with micropulse transscleral diode ...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.5935/0004-2749.20190076
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abstract::To describe different techniques for the detection of diabetic foveal edema. A retrospective review of the detection of diabetic foveal edema. Noncontact lens biomicroscopy is relatively insensitive in mild foveal thickening apparent on optical coherence tomography. Optical coherence tomography measurements can detect...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章,评审
doi:10.1590/s0004-27492008000500030
更新日期:2008-09-01 00:00:00
abstract:PURPOSE:To analyze visual acuity without correction and rotational stability outcomes following toric IOL implantation. METHODS:Prospective study of 20 eyes of 13 patients that underwent phacoemulsification surgery indicated for cataract associated with regular keratomeric astigmatism, symmetrical, ranging from 1 to 4...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 临床试验,杂志文章
doi:10.1590/s0004-27492009000500007
更新日期:2009-09-01 00:00:00
abstract::We report the case of an 11-year-old girl with sickle cell disease who presented to the emergency room after being hit by a mud pie in the left frontal region. Examination evidenced left eye proptosis, eyelid swelling, reduced visual acuity and afferent pupillary defect, without any inflammatory signs such as fever, h...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492008000200024
更新日期:2008-03-01 00:00:00
abstract:PURPOSE:To evaluate the effect of intravitreal triamcinolone acetonide in patients with diffuse diabetic macular edema on the visual acuity and intraocular pressure. To report the potential adverse events and to analyze the potential relationship between age and visual acuity and intraocular pressure variability. METH...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492010000200006
更新日期:2010-03-01 00:00:00
abstract:PURPOSES:To evaluate the retina nerve fiber layer by laser polarimetry in patients in chronic use of chloroquine. METHODS:Forty-four eyes of twenty-two patients were studied. These were in use of chloroquine due to rheumatic diseases during at least one year. As a control group, twenty patients without use of chloroqu...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492005000200008
更新日期:2005-03-01 00:00:00
abstract::Vogt-Koyanagi-Harada disease (VKH), a well-established multiorgan disorder affecting pigmented structures, is an autoimmune disorder of melanocyte proteins in genetically susceptible individuals. Several clinical and experimental data point to the importance of the effector role of CD4+ T cells and Th1 cytokines, the ...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章,评审
doi:10.1590/s0004-27492009000300028
更新日期:2009-05-01 00:00:00
abstract:PURPOSE:To assess the ability of spectral domain optical coherence tomography (SD-OCT) to diagnose macular changes pre- and post-cataract surgery and to identify changes in central foveal thickness (CFT) relative to age, sex, and presence of concomitant ophthalmic pathologies, for a period of 6 months post-surgery. ME...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.5935/0004-2749.20150062
更新日期:2015-07-01 00:00:00
abstract:PURPOSE:To compare the safety and efficacy of human preserved amniotic membrane (AM) in the trabeculectomy for treatment of primary open-angle glaucoma. METHODS:A prospective, randomized clinical trial compared primary trabeculectomy with amniotic membrane (study group) and without amniotic membrane (control group) in...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章,随机对照试验
doi:10.1590/s0004-27492006000300005
更新日期:2006-05-01 00:00:00
abstract::Discoid lupus is characterized by erythematosus lesions limited to the skin, covered by adherent white scales, which rise at places more exposed to the sun. A case of a 26 year-old woman, who was suffering for months from redness and burning of the eyes, and was been treated for blepharitis without resolution is repor...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492009000400023
更新日期:2009-07-01 00:00:00
abstract:PURPOSE:To compare the results of strabismus surgery under peribulbar and general anesthesia in cases of small and moderate angle of horizontal strabismus. METHODS:Medical records of eighty-four patients with small and moderate angle horizontal strabismus who underwent strabismus surgery were reviewed. Forty-two patie...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492008000300009
更新日期:2008-05-01 00:00:00
abstract::The authors describe an unusual association between posterior keratoconus and iris atrophy, confirmed by a complete ocular evaluation, scheimpflug imaging and pachymetric curve. A hypothesis for concomitant findings is discussed. ...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 信件
doi:10.5935/0004-2749.20190014
更新日期:2019-01-01 00:00:00
abstract::The present study reports two cases of symptomatic essential trichomegaly. Trichomegaly may develop in various diseases, including anorexia nervosa, hypothyroidism, pregnancy, pretibial myxedema, systemic lupus erythematosus, vernal keratoconjunctivitis, and uveitis. The exact incidence trichomegaly is unknown, and th...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492013000100015
更新日期:2013-01-01 00:00:00
abstract:PURPOSES:To evaluate the prevalence of retinopathy of prematurity in premature babies examined at the "Hospital de Olhos Sadalla Amin Ghanem", coming from the "Maternidade Darcy Vargas" during the period from June 1992 to June 1999. To describe the risk factors that cause a predisposition to develop retinopathy of prem...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492007000100011
更新日期:2007-01-01 00:00:00
abstract:PURPOSE:Evaluate contact lenses fitting after intracorneal ring implantation for keratoconus, its visual acuity and comfort. METHODS:Retrospective study of patients undergoing contact lenses fitting, after intracorneal ring for keratoconus. The criterion for contact lens fitting was unsatisfactory visual acuity with s...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492013000400004
更新日期:2013-07-01 00:00:00
abstract:PURPOSE:To measure, using the retinal thickness analyzer, the mean foveal thickness and the mean perifoveal thickness values on patients suffering from mild non-proliferative diabetic retinopathy without clinically detectable macular edema (classified by the ETDRS study), and compare them with healthy individuals. MET...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492009000400013
更新日期:2009-07-01 00:00:00
abstract:PURPOSE:To determine a correction factor for refractive errors evaluated without cycloplegy effect. METHODS:A study was made with 623 patients (1,246 eyes) of both sexes, aging between 3 and 40 years old. The dynamic and static refractometries were obtained using the automated refractor Shin-Nippon Accuref-K 9001. 1% ...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492009000600009
更新日期:2009-11-01 00:00:00
abstract::We report the case of a patient who received conjunctival tattooing for cosmetic purposes with associated complications. A 28-year-old male experienced severe ocular pain after undergoing conjunctival tattooing. Slit-lamp examination revealed blue deposits over the conjunctiva in association with intense conjunctival ...
journal_title:Arquivos brasileiros de oftalmologia
pub_type:
doi:10.5935/0004-2749.20170098
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journal_title:Arquivos brasileiros de oftalmologia
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doi:10.5935/0004-2749.20150047
更新日期:2015-05-01 00:00:00
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journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492011000400014
更新日期:2011-07-01 00:00:00
abstract::Retinoschisis is an abnormal separation of the retinal layers and is asymptomatic in most cases. Enlargement of the area of retinoschisis and retinal tear and detachment are possible complications of the disease, and the treatment of retinoschisis is controversial. In this case report, we present a case of retinal det...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.5935/0004-2749.20150014
更新日期:2015-01-01 00:00:00
abstract:PURPOSE:To determine the most common approach to repair the anophthalmic socket in Brazil, and to compare the data with the trends in other countries. METHODS:Exploratory study using electronic questionnaire sent by Internet to ophthalmologists members of the Brazilian Orbit and Oculoplastic Society (SBCPO). The recei...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492012000600004
更新日期:2012-11-01 00:00:00
abstract:PURPOSE:To investigate the advantages and the complications of the use of hard palate graft in the reconstruction of the inferior eyelids with large basocelular carcinoma. METHODS:Review of specialized articles and report of the technique used in the Oculoplastic Department of the "Hospital Santa Casa de Porto Alegre"...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章,评审
doi:10.1590/s0004-27492008000400009
更新日期:2008-07-01 00:00:00
abstract::Orbital emphysema is the abnormal presence of air in the orbit. Occurrence in the absence of orbital fracture is rare. We report a case of a 40-year-old female presenting unilateral orbital emphysema after vigorous nose blowing. She developed sudden visual loss as a result of elevated intraocular pressure and urgent t...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492009000200024
更新日期:2009-03-01 00:00:00
abstract:PURPOSE:The present study's aim was to compare the biomechanical properties of corneal tissue in patients who underwent deep anterior lamellar keratoplasty (DALK) surgery, with successful big bubble formation and manual lamellar dissection, during failed big bubble formation. METHODS:This retrospective comparative stu...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.5935/0004-2749.20200022
更新日期:2020-03-01 00:00:00
abstract::We describe the case of a 23-month-old female infant with a diagnosis of hemolytic uremic syndrome (HUS) and hemorrhagic retinopathy. The patient had a past history of abdominal pain, bloody diarrhea, and acute renal failure. On ophthalmologic examination, indirect ophthalmoscopy revealed extensive areas of flame-shap...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.5935/0004-2749.20140099
更新日期:2014-11-01 00:00:00
abstract:PURPOSE:We aimed to compare the thickness of anterior sclera, corneal layers, and pre-ocular tear film between patients with primary Sjögren's syndrome and healthy individuals. METHODS:Fifty-one patients with primary Sjögren's syndrome and 41 healthy control participants were recruited in this cross-sectional and comp...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.5935/0004-2749.20190054
更新日期:2019-07-01 00:00:00
abstract:PURPOSE:Analysis of the relevance of preoperative evaluation to prevent adverse clinical events, pre- and postoperative, on cataract surgery. METHODS:The study includes 1254 patients submitted to cataract surgery at the Instituto da Catarata do Departamento de Oftalmologia da UNIFESP - EPM, in the period of Jan - Dec ...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492007000400014
更新日期:2007-07-01 00:00:00
abstract:PURPOSE:To determine the incidence of positive corneoscleral rim cultures preserved in Optisol GS medium, to identify pathogens involved and possible recipient eye infection. METHODS:A hundred sixty-three corneoscleral rim cultures penetrating keratoplasties performed from January 2001 to January 2003 in the Hospital ...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492008000100003
更新日期:2008-01-01 00:00:00