Abstract:
:Waardenburg syndrome (WS) type I is a non-progressive auditory-pigmentary disorder comprising congenital sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin, along with dystopia canthorum (lateral displacement of the inner canthi). Affected individuals may have higher risk of: neural tube defects, cleft lip and palate, limb abnormalities, and Hirschsprung disease. The diagnosis is clinical and should be considered if the individual has two major or one major plus two minor criteria. PAX3 is the only known gene associated to the syndrome. Nevertheless, its use is mostly for genetic counseling. Regarding different diagnosis, we may list: other causes of non-progressive auditory-pigmentary disorder comprising congenital sensorineural hearing loss, other types of Waardenburg syndrome, piebaldism, albinism, vitiligo and Teitz syndrome. This paper presents a case of an eleven year old boy with deafness and ophthalmologic alterations, based on his files and exams. It reinforced the importance of the ophthalmologist contributing for the diagnosis of this rare systemic disease, as it includes some ophthalmologic alterations. We remind that the early diagnosis allows adequate stimulation for the hearing loss, as well as preventive measures in case of pregnant women affected by genetic counseling.
journal_name
Arq Bras Oftalmoljournal_title
Arquivos brasileiros de oftalmologiaauthors
Silva PC,Rangel P,Couto A Jrdoi
10.1590/s0004-27492011000300013subject
Has Abstractpub_date
2011-05-01 00:00:00pages
209-10issue
3eissn
0004-2749issn
1678-2925pii
S0004-27492011000300013journal_volume
74pub_type
杂志文章abstract:PURPOSE:To assess the in vitro susceptibility of conjunctival and corneal coagulase negative Staphylococcus (CoNS) to methicillin, fluoroquinolones and aminoglycosides. METHODS:A total of 707 conjunctival and corneal CoNS disk diffusion test results were retrospectively analyzed, from January 2000 through December 200...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492007000600007
更新日期:2007-11-01 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
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:PURPOSE:To evaluate whether any topical anti-glaucoma medications increase the risk of lacrimal drainage system obstruction or whether the presence of preservatives alone is sufficient to generate obstruction. METHODS:This nested case-control study compared a group of patients with lacrimal duct obstruction who receiv...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.5935/0004-2749.20180095
更新日期:2018-11-01 00:00:00
abstract:PURPOSE:To evaluate the correlation between the preoperative visual acuity (VA) obtained by the potential acuity meter (PAM) and the postoperative VA in a patient submitted to cataract surgery, as well as its correlation with the dominant morphologic classification of the cataract. METHODS:This is a prospective study ...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492008000600007
更新日期:2008-11-01 00:00:00
abstract:PURPOSE:Mitomycin C has been used in ophthalmic surgery to mitigate postoperative scarring. However, the outcomes of endoscopic-assisted probing for the treatment of congenital nasolacrimal duct obstruction with adjunctive mitomycin C in children remain unknown. Our study was aimed to evaluate the efficacy and safety o...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.5935/0004-2749.20200062
更新日期:2020-06-01 00:00:00
abstract::Permanent visual loss can be caused by improper use of immunosuppressive therapy in cases of uveitis without differential diagnosis of syphilitic uveitis. We present four cases of syphilitic uveitis that were incorrectly diagnosed as being secondary to rheumatic diseases and were subsequently treated with immunosuppre...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.5935/0004-2749.20150047
更新日期:2015-05-01 00:00:00
abstract::The following report describes a case of apical leucoma syndrome after hyperopic photorefractive keratectomy following hyperopic laser in situ keratomileusis and the subsequent treatment of this complication with focal phototherapeutic keratectomy. The patient underwent focal transepithelial phototherapeutic keratecto...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 信件
doi:10.5935/0004-2749.20180068
更新日期:2018-07-01 00:00:00
abstract:PURPOSE:To evaluate the epidemiology of superficial corneal foreign body. METHODS:Patients who were seen at the Emergency Service of the Federal University of São Paulo, from April/05 to June/05, were screened and those with superficial corneal foreign body were interviewed. Data regarding gender, age, occupation, emp...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492008000200004
更新日期:2008-03-01 00:00:00
abstract:PURPOSE:Cataract is the main cause of blindness, affecting 18 million people worldwide, with the highest incidence in the population above 50 years of age. Low visual acuity caused by cataract may have a negative impact on patient quality of life. The current treatment is surgery in order to replace the natural lens wi...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.5935/0004-2749.20150025
更新日期:2015-03-01 00:00:00
abstract:PURPOSE:To compare the postoperative results of phacotrabeculectomy with implantation of PMMA, foldable silicone or foldable hydrofobic acrylic intraocular lens (IOL). SETTING:Glaucoma unit, The Royal Liverpool University Hospital, Liverpool, United Kingdom. METHODS:We studied a total of 124 eyes of three consecutive...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492005000100006
更新日期:2005-01-01 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::Herein, we report two cases of vision loss after successful cataract surgery, associated with drusenoid retinal pigment epithelial detachment without features of choroidal neovascularization on optical coherence tomography along with angiographic examinations suggestive of choroidal neovascularization in which anatomi...
journal_title:Arquivos brasileiros de oftalmologia
pub_type:
doi:10.5935/0004-2749.20170064
更新日期:2017-07-01 00:00:00
abstract::Cicatricial ectropion may be a consequence of certain systemic diseases as well as the result of drug use. Our goal here was to research the different causes of this condition as reported in the literature, including more recently suspected etiologies. A detailed PubMed literature search indicated many different etiol...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章,评审
doi:10.5935/0004-2749.20190068
更新日期:2019-05-20 00:00:00
abstract:PURPOSE:To show the subperiosteal midface lift as an option to treat cicatricial eyelid ectropion. METHODS:Nine patients submitted to 12 surgeries to correct cicatricial eyelid ectropion, were evaluated according sex, age and treatment results. All the patients had the surgery done under local anesthesia and the midfa...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492005000400019
更新日期:2005-07-01 00:00:00
abstract:PURPOSE:To describe costs and outcomes of phacoemulsification for cataracts performed by ophthalmology residents. METHODS:We obtained medical records from patients operated on in 2011 by third year residents (R3) using phacoemulsification (n=576). Our expenses estimation included professionals' and hospital costs (fee...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.5935/0004-2749.20200059
更新日期:2020-06-01 00:00:00
abstract:PURPOSE:To describe the use of a lid crease incision for upper eyelid margin rotation in cicatricial entropion combining internal traction on the anterior lamella, tarsotomy, and tarsal overlap without external sutures. METHODS:Surgical description: The main steps of the procedure consisted of exposure of the entire t...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.5935/0004-2749.20150097
更新日期:2015-11-01 00:00:00
abstract:PURPOSE:To evaluate fixation by a bioadhesive of the external ocular muscles to the porous polyethylene spheres. METHODS:An experimental study was performed using eight white rabbits that underwent right eye enucleation with placement of 12 mm spheres of porous polyethylene. The rectus muscles (superior and inferior) ...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492007000200007
更新日期:2007-03-01 00:00:00
abstract::Undifferentiated pleomorphic sarcoma (UPS) is an extremely rare tumor that occurs in the head and neck region. Here, we report a unique case of a primary undifferentiated pleomorphic sarcoma in the orbital region. A 35-year-old woman presented with a progressive proptosis and periocular edema for 1 year. She had no pr...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 信件
doi:10.5935/0004-2749.20180033
更新日期:2018-04-01 00:00:00
abstract::To report a case of aberrant regeneration followed by acute palsy of the oculomotor nerve caused by intracranial aneurysm. A 59-year-old patient was attended in February 2006 complaining of headache with diplopia and blepharoptosis in the right eye. At the external ocular motility exam. Aduction, supraduction and infr...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492008000300028
更新日期:2008-05-01 00:00:00
abstract:Purpose::To compare central corneal thickness (CCT) measurements of healthy individuals obtained with ultrasonic pachymetry (UP) and non-contact specular microscopy (NCSM). Method::In total, 148 eyes of 74 subjects with no ocular or systemic diseases were included in the study. Central corneal thickness measurements o...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.5935/0004-2749.20160089
更新日期:2016-09-01 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:PURPOSE:To study the deformation response of three distinct contact lenses with known structures, which served as corneal models, under different chamber pressures using ultra-high-speed (UHS) Scheimpflug imaging. METHODS:Three hydrophilic contact lenses were mounted on a sealed water chamber with precisely adjustable...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492013000500005
更新日期:2013-10-01 00:00:00
abstract:PURPOSE:To demonstrate optical coherence tomography efficacy to evaluate macular anatomical outcomes, in eyes with silicone oil-filled vitreous cavity after vitrectomy. METHODS:A descriptive observational study of 28 (twenty-eight) patients submitted to pars plana vitrectomy having silicone oil as vitreous substitute....
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492007000200017
更新日期:2007-03-01 00:00:00
abstract:PURPOSE:To culture quiescent human keratocytes and evaluate the effects of ultraviolet light and riboflavin on human corneal keratocytes in vitro. METHODS:Keratocytes were obtained from remaining corneoscleral ring donor corneas previously used in corneal transplant surgeries and cultured in DMEM/F12 with 2% FBS until...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.5935/0004-2749.20160052
更新日期:2016-05-01 00:00:00
abstract::Interferon and ribavirin are medications widely used in the treatment of some systemic diseases, mainly hepatitis C. Ribavirin when associated with interferon increases the rate of success of this treatment. There are about 170 million patients with chronic hepatitis C in the world, many in use of these medications. T...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492006000400028
更新日期:2006-07-01 00:00:00
abstract:PURPOSE:To evaluate the biopsychosocial profile of patients with anophthalmia, with emphasis on the psychological and functional impact of eye loss and the social reintegration of this population. METHODS:Prospective analyses of 84 patients (50 males and 34 females), rehabilitated or in the rehabilitation process with...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492008000600017
更新日期:2008-11-01 00:00:00
abstract::Report on the development of pseudohypopyon immediately after intravitreal injection of triamcinolone acetonide (TAAC). Two phakic patients presenting with a transient pseudohypopyon after having been treated with intravitreal triamcinolone. One had a clinically significant macular edema with cystoid component (CSME w...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492005000200018
更新日期:2005-03-01 00:00:00
abstract:PURPOSE:To investigate the reliability of ultrasound in determining the size and identify the sonographic features and artifacts generated by intraocular foreign bodies of different materials. METHODS:Experimental study using 36 enucleated porcine eyes. Fragments of nine different compositions (wood, glass, plastic, c...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492013000100005
更新日期:2013-01-01 00:00:00
abstract:PURPOSE:To evaluate the ophthalmic artery hemodynamics in patients with chronic heart failure. METHODS:Doppler parameters of ophthalmic artery of 18 patients with chronic heart failure in different stages of the disease were compared with 21 healthy volunteers (control group). These parameters were also correlated wit...
journal_title:Arquivos brasileiros de oftalmologia
pub_type: 杂志文章
doi:10.1590/s0004-27492011000500003
更新日期:2011-09-01 00:00:00