Abstract:
PURPOSE:Sjögren-Larsson syndrome (SLS), an autosomal recessive hereditary disorder with congenital ichthyosis, spastic diplegia or tetraplegia, and mental retardation, reveals a characteristic macular dystrophy with intraretinal crystals and foveal pseudocysts. Ophthalmic symptoms in SLS are reduced visual acuity and photophobia. This article reports the deficiency of macular pigment as a novel finding in this peculiar, congenital maculopathy. DESIGN:Cross-sectional, observational case study. PARTICIPANTS:Patients with clinically and genetically proven SLS. METHODS:Besides general ophthalmologic examination, 2 different methods were used, fundus autofluorescence (FAF) and fundus reflectometry with the macular pigment reflectometer (MPR), for measuring macular pigment (MP). MAIN OUTCOME MEASURES:Distribution profiles and quantity of MP in eyes of SLS patients. RESULTS:Twenty-eight eyes of 14 patients were included. The technique to measure MP depended on the ability of the mentally handicapped patients to cooperate. Fundus autofluorescence images providing qualitative estimates were obtained from 9 eyes of 5 patients, and MPR measures providing quantitative estimates were obtained from 19 eyes of 10 patients. Fundus autofluorescence images of SLS patients lacked the typical attenuation of macular FAF signal expected in normal eyes. Mean foveal MP levels measured by MPR showed significantly lower values in SLS patients (0.10+/-0.07) than in healthy individuals (0.69+/-0.17; P<0.001, Student t test). CONCLUSIONS:The group of SLS patients studied here had significantly reduced levels of foveal MP. The crystalline macular dystrophy in SLS seems to be the first known disease with a genetically caused deficiency of MP.
journal_name
Ophthalmologyjournal_title
Ophthalmologyauthors
van der Veen RL,Fuijkschot J,Willemsen MA,Cruysberg JR,Berendschot TT,Theelen Tdoi
10.1016/j.ophtha.2009.10.019subject
Has Abstractpub_date
2010-05-01 00:00:00pages
966-71issue
5eissn
0161-6420issn
1549-4713pii
S0161-6420(09)01192-0journal_volume
117pub_type
杂志文章相关文献
OPHTHALMOLOGY文献大全abstract::Unilateral visual loss following periocular corticosteroid injection is a reported complication of injections of tonsillar, nasal, scalp, and retrobulbar sites. This is the first reported case, to our knowledge, of intralesional corticosteroid injection of a chalazion producing ipsilateral microembolization and infarc...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(86)33728-x
更新日期:1986-03-01 00:00:00
abstract:PURPOSE:To define the incidence of pseudophakic macular edema (PME) after cataract surgery and to identify contributory risk factors. DESIGN:Retrospective database study of electronic medical records (EMRs). PARTICIPANTS:A total of 81984 eyes undergoing cataract surgery between December 2010 and December 2014 from 8 ...
journal_title:Ophthalmology
pub_type: 杂志文章,多中心研究
doi:10.1016/j.ophtha.2015.10.001
更新日期:2016-02-01 00:00:00
abstract:OBJECTIVE:To determine whether glaucoma patients with progressive optic disc change have subsequent visual field progression earlier and at a faster rate compared with those without disc change. DESIGN:Prospective, longitudinal, cohort study. PARTICIPANTS AND CONTROLS:Eighty-one patients with open-angle glaucoma. ME...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2009.04.031
更新日期:2009-11-01 00:00:00
abstract::Malignant rhabdoid tumor (MRT), originally described as a sarcomatous variant of Wilms' tumor, is now recognized as a distinct, highly malignant entity. The authors describe, for the first time, a primary tumor of the orbit with histologic, immunohistochemical, and ultrastructural features of MRT. Their findings sugge...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(89)32666-2
更新日期:1989-11-01 00:00:00
abstract:OBJECTIVE:Nonmydriatic fundus photography by non-ophthalmic-trained personnel has recently been shown to be a potential alternative to direct ophthalmoscopy in the emergency department (ED). We evaluated the reliability of a novel quality rating scale and applied this scale to nonmydriatic fundus photographs taken duri...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2011.09.013
更新日期:2012-03-01 00:00:00
abstract:PURPOSE:To describe associations between reticular pseudodrusen, individual characteristics, and retinal function. DESIGN:Cohort study. PARTICIPANTS:We recruited 105 patients (age range, 52-93 years) who had advanced neovascular age-related macular degeneration (AMD) in only 1 eye from 3 clinical centers in Europe. ...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2014.03.015
更新日期:2014-09-01 00:00:00
abstract::Both eyes from a 75-year-old woman who had unilateral closed-angle glaucoma, characteristic endothelial specular microscopic findings, and slowly progressive tractional iris abnormalities consistent with essential iris atrophy were obtained postmortem and studied by light, scanning, and transmission electron microscop...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(87)33541-9
更新日期:1987-07-01 00:00:00
abstract:PURPOSE:To examine the decrease in the intraocular concentration of intravitreally injected triamcinolone acetonide over an 8-month period in a rabbit model. DESIGN:Experimental study. PARTICIPANTS:The study included 18 white New Zealand rabbits. METHODS:The animals received an intravitreal injection of 6 mg triamci...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2008.01.019
更新日期:2008-08-01 00:00:00
abstract:PURPOSE:This study sought to determine the validity of self-report of prior panretinal photocoagulation (PRP) and focal photocoagulation (FP) compared with fundus photography. DESIGN:Prospective cohort study. PARTICIPANTS:One thousand three hundred sixty-three type 1 diabetic subjects from the Epidemiology of Diabete...
journal_title:Ophthalmology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1016/j.ophtha.2013.06.002
更新日期:2013-12-01 00:00:00
abstract::Chorioretinitis developed in the right eye of a patient with contact lens-associated Acanthamoeba keratitis in the left eye during an acute exacerbation of the keratitis. This chorioretinitis may have resulted from hematogenous dissemination from his corneal infection. ...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(88)33143-x
更新日期:1988-05-01 00:00:00
abstract:OBJECTIVE:This study aimed to investigate whether previously failed glaucoma filtration surgery is a risk factor for filtration failure of subsequent trabeculectomy combined with cataract surgery and to determine the role of adjunctive mitomycin C (MMC) in the secondary glaucoma triple procedure (SGTP) as compared to p...
journal_title:Ophthalmology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/S0161-6420(98)94032-5
更新日期:1998-04-01 00:00:00
abstract::The authors conducted a multicenter, randomized, controlled trial to test whether the Schocket shunt with a larger shunt reservoir surface area would provide a lower final intraocular pressure than the double-plate Molteno implant. However, the Molteno implant produced a statistically lower intraocular pressure at 6 m...
journal_title:Ophthalmology
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1016/s0161-6420(92)31911-6
更新日期:1992-05-01 00:00:00
abstract:PURPOSE:To quantify optic nerve head circulatory abnormalities in patients with unilateral nonarteritic anterior ischemic optic neuropathy (NAION) or optic neuritis (ON), and to assess the potential of such measurements to differentiate NAION from ON. DESIGN:Prospective, cross-sectional, observational study. PARTICIP...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2004.05.020
更新日期:2004-09-01 00:00:00
abstract:PURPOSE:The authors analyzed all the complications associates with the first 100 hydroxyapatite orbital implants performed by one surgeon, and compare scleral wrapping versus Dexon mesh (polyglycolic acid, Davis & Geck, Manati, Puerto Rico) wrapping in light of these complications. BACKGROUND:Prior studies have not in...
journal_title:Ophthalmology
pub_type: 杂志文章,评审
doi:10.1016/s0161-6420(97)30316-9
更新日期:1997-02-01 00:00:00
abstract:PURPOSE:The diagnosis of macular holes is difficult. Confocal laser tomographic analysis of the retina permits the precise measurements of the macular surface. The authors used this technique to study the macular area of patients with full-thickness macular holes. The purposes of these studies is to perform three-dimen...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(95)30847-0
更新日期:1995-10-01 00:00:00
abstract::Three hundred eight patients with strabismus were treated with botulinum A toxin (Oculinum) chemodenervation; 153 were followed by the authors for at least 6 months. In this study group, 97 received botulinum A toxin injections as the primary method of treatment of their ocular deviation. Fifty-six received injections...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(89)32776-x
更新日期:1989-07-01 00:00:00
abstract:PURPOSE:To assess the long-term efficacy and stability of LASIK for hyperopia (+0.75 to +7.00 diopters [D]). DESIGN:Retrospective follow-up study of a previous phase III multicenter clinical trial (unpublished data). PARTICIPANTS:Patients who had been treated for hyperopia (33 individuals, 47 eyes) attended follow-up...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2004.09.017
更新日期:2005-02-01 00:00:00
abstract::A 60-year-old white man from an area endemic for Histoplasma capsulatum presented with a vitreous wick, hypopyon iritis, and dense vitreitis 2 months after removal of an anterior chamber intraocular lens (IOL) for chronic iritis. A diagnostic vitrectomy was performed and H. capsulatum was cultured and identified 2 wee...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(90)32603-9
更新日期:1990-02-01 00:00:00
abstract::The authors present a series of seven patients with acute visual loss associated with mild anterior uveitis, multifocal retinal vasculitis, retinal capillary nonperfusion, retinal hemorrhage, disc swelling, and vitreitis. Oral prednisone was of some benefit in these patients and oral acyclovir was generally ineffectiv...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(88)32951-9
更新日期:1988-12-01 00:00:00
abstract:OBJECTIVE:Corneal polarization axis (CPA) has been reported to affect retardation measurements obtained with scanning laser polarimetry. The purpose of this investigation was to evaluate the longitudinal stability of CPA measurements. DESIGN:Prospective, noncomparative case series. PARTICIPANTS:Persons with normal co...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(01)00569-3
更新日期:2001-06-01 00:00:00
abstract:OBJECTIVE:To estimate the age- and gender-specific prevalence of posterior subcapsular (PSC), nuclear, cortical, and mixed lens opacities in a population-based sample of Latinos 40 years and older. DESIGN:Population-based, cross-sectional study. PARTICIPANTS:Six thousand three hundred fifty-seven Latinos 40 years and...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2004.01.024
更新日期:2004-08-01 00:00:00
abstract:OBJECTIVE:To determine the frequency distribution of bacteria on the external surface of eyes of patients with atopic dermatitis (AD) and to investigate the relationship between the frequency of bacterial colonization and the grade of atopy or ocular diseases associated with AD. DESIGN:Comparative cross-sectional stud...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(00)00406-1
更新日期:2000-12-01 00:00:00
abstract:OBJECTIVE:To evaluate the effect of partial surgical excision of enlarged lacrimal caruncles, termed megalocaruncles, in patients with epiphora from functional lacrimal drainage obstruction. DESIGN:Retrospective, noncomparative, interventional case series. PARTICIPANTS:From May 1995 through December 1999, 88 patients...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(00)00637-0
更新日期:2001-04-01 00:00:00
abstract::Phenylephrine hydrochloride is a potent, effective, relatively safe drug with few ocular side effects. Side effects from topical instillation are uncommon but include severe systemic cardiovascular effects with elevated blood pressure and stroke. Ten percent phenylephrine should be used with caution in patients with k...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(80)35108-7
更新日期:1980-11-01 00:00:00
abstract:PURPOSE:To perform a detailed clinical, psychophysical, and molecular assessment of members of 4 families with an unusual X-linked cone dysfunction syndrome associated with myopia. PARTICIPANTS:Affected and unaffected members of 4 British nonconsanguineous families. METHODS:Subjects underwent both detailed clinical e...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2005.02.021
更新日期:2005-08-01 00:00:00
abstract:OBJECTIVE:To describe the successful treatment and long-term outcomes of primary ocular surface squamous neoplasia (OSSN) with topical interferon alfa-2b or surgical excision. DESIGN:Retrospective, comparative, interventional case series. PARTICIPANTS:Twenty-nine consecutive patients with OSSN never before treated. ...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2008.01.006
更新日期:2008-08-01 00:00:00
abstract:PURPOSE:To estimate payments for glaucoma care among Medicare beneficiaries from 2002 to 2009. DESIGN:Database study. PARTICIPANTS:Data from a 5% random sample of Medicare billing information from 2002 to 2009. METHODS:Medicare beneficiaries, aged 65 years or older, with both Parts A and B fee-for-service (FFS) enro...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2013.04.027
更新日期:2013-11-01 00:00:00
abstract:PURPOSE:To investigate if previous intravitreal therapy is a predictor of posterior capsule rupture (PCR) during cataract surgery. DESIGN:Multicenter, national electronic medical record (EMR) database study with univariate and multivariate regression modeling. PARTICIPANTS:A total of 65 836 eyes of 44 635 patients un...
journal_title:Ophthalmology
pub_type: 杂志文章,多中心研究
doi:10.1016/j.ophtha.2016.02.014
更新日期:2016-06-01 00:00:00
abstract:OBJECTIVE:To evaluate the efficacy of a second year of pegaptanib sodium therapy in patients with neovascular age-related macular degeneration (AMD). DESIGN:Two concurrent, multicenter, randomized, double-masked, sham-controlled studies (V.I.S.I.O.N. [Vascular Endothelial Growth Factor Inhibition Study in Ocular Neova...
journal_title:Ophthalmology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1016/j.ophtha.2006.02.064
更新日期:2006-09-01 00:00:00
abstract::Vitreous amyloid may be the presenting clinical manifestation of types 1 and 2 familial amyloidotic polyneuropathy or complicate the course of these syndromes. Recent studies have shown that the major subunit protein composing amyloid fibrils in these conditions is a variant or abnormal prealbumin molecule and that af...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(87)33531-6
更新日期:1987-07-01 00:00:00