Abstract：
:Pseudoxanthoma elasticum is an autosomally inherited disorder that is associated with the accumulation of mineralized and fragmented elastic fibers in the skin, Bruch's membrane in the retina, and vessel walls. The ophthalmic and dermatologic expression of pseudoxanthoma elasticum and its vascular complications are heterogeneous, with considerable variation in phenotype, progression, and mode of inheritance. Using linkage analysis and mutation detection techniques, mutations in the ABCC6 gene were recently implicated in the etiology of pseudoxanthoma elasticum. ABCC6 encodes the sixth member of the ATP-binding cassette transporter and multidrug resistance protein family (MRP6). In humans, this transmembrane protein is highly expressed in the liver and kidney. Lower expression was found in tissues affected by pseudoxanthoma elasticum, including skin, retina, and vessel walls. So far, the substrates transported by the ABCC6 protein and its physiological role in the etiology of pseudoxanthoma elasticum are not known. A functional transport study of rat MRP6 suggests that small peptides such as the endothelin receptor antagonist BQ123 are transported by MRP6. Similar molecules transported by ABCC6 in humans may be essential for extracellular matrix deposition or turnover of connective tissue at specific sites in the body. One of these sites is Bruch's membrane. This review is an update on etiology of pseudoxanthoma elasticum, including its clinical and genetic features, pathogenesis, and biomolecular basis.
journal_name
Surv Ophthalmoljournal_title
Survey of ophthalmologyauthors
Hu X,Plomp AS,van Soest S,Wijnholds J,de Jong PT,Bergen AAdoi
10.1016/s0039-6257(03)00053-5subject
Has Abstractpub_date
2003-07-01 00:00:00pages
424-38issue
4eissn
0039-6257issn
1879-3304pii
S0039625703000535journal_volume
48pub_type
杂志文章,评审abstract：:There are a number of unresolved questions regarding small choroidal melanomas. At what stage in the natural history of these tumors do they develop the capacity to metastasize? What are the effects of various therapeutic modalities on the incidence of metastatic disease? Clinicopathologic studies suggest that patient...
journal_title：Survey of ophthalmology
pub_type： 杂志文章
doi：10.1016/0039-6257(78)90133-9
更新日期：1978-05-01 00:00:00
abstract：:Leiomyoma of the ciliary body is a rare tumor that often causes a diagnostic dilemma. Sclerouvectomy has been found to be beneficial in the management of iris and ciliary body leiomyoma. We treated a case of leiomyoma of the ciliary body presenting as a fleshy mass in the anterior chamber, removed by partial lamellar ...
journal_title：Survey of ophthalmology
pub_type： 杂志文章,评审
doi：10.1016/s0039-6257(99)00114-9
更新日期：2000-01-01 00:00:00
abstract：:Glaucoma, primarily a disease of the older population, may affect women of childbearing age. Pregnancy affects the intraocular pressure (IOP) of women with pre-existing glaucoma. Both elevations and reductions of IOP have been reported during pregnancy. Additionally, visual field test results may fluctuate during preg...
journal_title：Survey of ophthalmology
pub_type： 杂志文章,评审
doi：10.1016/j.survophthal.2010.11.008
更新日期：2011-07-01 00:00:00
abstract：:To compare the cost-effectiveness of bimatoprost versus latanoprost for the treatment of glaucoma and ocular hypertension, a cost-effectiveness algorithm was developed to estimate the annual costs and cost per treatment success (cost-effectiveness) for bimatoprost 0.03% QD compared with latanoprost 0.005% QD. Medicati...
journal_title：Survey of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.survophthal.2003.12.018
更新日期：2004-03-01 00:00:00
abstract：:A 47-year-old woman presented with a medial orbital tumor initially diagnosed as either a myxoid neurofibroma or myoepithelioma. Over 30 years the tumor recurred seven times and was serially debulked. Careful histopathologic analysis coupled with immunohistochemical studies performed on the last two biopsies establish...
journal_title：Survey of ophthalmology
pub_type： 杂志文章,评审
doi：10.1016/j.survophthal.2014.12.002
更新日期：2015-03-01 00:00:00
abstract：:Autosomal dominant optic atrophy is an inherited optic neuropathy manifesting with variable penetrance and expressivity. Other genetic and environmental factors are postulated to contribute to more marked visual loss in some affected individuals. Optic neuropathy is also a known adverse effect of ethambutol therapy fo...
journal_title：Survey of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.survophthal.2009.10.005
更新日期：2010-07-01 00:00:00
abstract：:Suprachoroidal hemorrhage is a feared complication of all types of intraocular surgery. Although rare, it is typically associated with severe visual disability, and this has prompted efforts to better understand the pathogenesis of this condition, to identify the patients at risk for this event, and to improve treatme...
journal_title：Survey of ophthalmology
pub_type： 杂志文章,评审
doi：10.1016/s0039-6257(99)00037-5
更新日期：1999-05-01 00:00:00
abstract：:A ten-day ophthalmology clerkship for third-year medical students is described. The curriculum, detailed in a day-by-day syllabus, sets specific student goals, evaluates attainment of the goals by a pre-post test, utilizes a student-oriented study guide keyed to major textbrooks as core material with slide-tape and vi...
journal_title：Survey of ophthalmology
pub_type： 杂志文章
doi：10.1016/0039-6257(77)90090-x
更新日期：1977-09-01 00:00:00
abstract：:Cystic macular lesions frequently contribute to impaired visual acuity in hereditary retinal dystrophies. Their pathogenesis varies and is not entirely understood. Carbonic anhydrase inhibitors have proven to be potentially efficacious, although not in all cases. We discuss the various factors and mechanisms implicate...
journal_title：Survey of ophthalmology
pub_type： 杂志文章,评审
doi：10.1016/j.survophthal.2012.11.006
更新日期：2013-11-01 00:00:00
abstract：:A 30-year-old man presented with painless total visual loss in the right eye. Fundus exam and imaging was consistent with total internal carotid artery occlusion and hemispheric stroke. The presentation and management options of retinal vascular occlusive disease in association with asymptomatic stroke are discussed. ...
journal_title：Survey of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.survophthal.2014.06.007
更新日期：2015-05-01 00:00:00
abstract：:Lysosomal enzymes are distributed widely in various ocular tissues. Among these tissues, the uvea and retina show the higher enzyme activities of acid phosphates, beta-blucuronidase, alpha-fucosidase, alpha-mannosidase, arylsulfatase, cathepsin D, cathepsin B and others. The particular role of lysosomal enzymes in the...
journal_title：Survey of ophthalmology
pub_type： 杂志文章,评审
doi：10.1016/0039-6257(83)90125-x
更新日期：1983-01-01 00:00:00
abstract：:The possible applications of biofeedback to the treatment of ophthalmologic disorders is reviewed. Studies have suggested utility in the management of blepharospasms, strabismus, nystagmus, and other eye movement disorders as well as the training of voluntary control of accommodation. Limitations of the current litera...
journal_title：Survey of ophthalmology
pub_type： 杂志文章
doi：10.1016/0039-6257(83)90195-9
更新日期：1983-05-01 00:00:00
abstract：:The only Confederate president, Jefferson Davis, led a long and eventful life. He was a Mississippi planter, a husband, a father, West Point graduate, war hero, congressman, senator, secretary of war, and finally President of the Confederate States of America. In many ways he was a study of contrast with his northern ...
journal_title：Survey of ophthalmology
pub_type： 传,历史文章,杂志文章
doi：10.1016/j.survophthal.2006.08.007
更新日期：2006-11-01 00:00:00
abstract：:A case is presented of a 16-year-old anticoagulated, immunocompromised male presenting with a blind, proptotic left eye, total ophthalmoplegia, and central retinal artery occlusion. Ophthalmic examination revealed other features of the orbital apex syndrome. Mucormycosis misdiagnosed as a traumatic orbital hemorrhage ...
journal_title：Survey of ophthalmology
pub_type： 杂志文章
doi：10.1016/0039-6257(87)90106-8
更新日期：1987-09-01 00:00:00
abstract：:In the present study the relationship between intraocular pressure (IOP) and pulsatile ocular blood flow (POBF) in low tension glaucoma (LTG) has been investigated. The POBF was measured using the Ocular Blood Flow system of Langham in undisturbed eyes and repeated at IOP increments of about 5 and 10 mmHg in 20 patien...
journal_title：Survey of ophthalmology
pub_type： 临床试验,杂志文章
doi：10.1016/0039-6257(94)90064-7
更新日期：1994-05-01 00:00:00
abstract：:Recent advances in our understanding of the anatomy and physiology of accommodation have contributed to current concepts of the possible constituent factors in presbyopia, largely supplanting the long-held belief that presbyopia is due to sclerosis of the crystalline lens. In this review, the author examines epidemiol...
journal_title：Survey of ophthalmology
pub_type： 杂志文章,评审
doi：10.1016/0039-6257(89)90126-4
更新日期：1989-07-01 00:00:00
abstract：:In addition to the original and highly popular instrument designed by Goldmann, three other projection perimeters are now available. Features of the Goldmann, Topcon, Marco and Rodenstock machines are examined and compared. ...
journal_title：Survey of ophthalmology
pub_type： 杂志文章
doi：10.1016/0039-6257(75)90005-3
更新日期：1975-11-01 00:00:00
abstract：:In the current medical environment, long-standing and appropriate referral patterns among medical care providers may be scrutinized for possible violation of a technical provision of Medicare, the "anti-fraud and abuse statute." The physician can avoid misunderstanding by preparing and implementing a compliance progra...
journal_title：Survey of ophthalmology
pub_type： 杂志文章,评审
doi：10.1016/s0039-6257(99)90134-0
更新日期：2000-05-01 00:00:00
abstract：:The need of blood flow to different organs varies rapidly over time which is why there is sophisticated local regulation of blood flow. The term dysregulation simply means that blood flow is not properly adapted to this need. Dysregulative mechanisms can lead to an over- or underperfusion. A steady overperfusion may b...
journal_title：Survey of ophthalmology
pub_type： 杂志文章,评审
doi：10.1016/j.survophthal.2007.08.010
更新日期：2007-11-01 00:00:00
abstract：:The ocular posterior segment manifestations of AIDS may be divided into four categories: retinal vasculopathy, unusual malignancies, neuro-ophthalmologic abnormalities, and opportunistic infections. Microvasculopathy is the most common manifestation. Opportunistic infections, particularly cytomegalovirus retinitis and...
journal_title：Survey of ophthalmology
pub_type： 杂志文章,评审
doi：10.1016/j.survophthal.2003.12.008
更新日期：2004-03-01 00:00:00
abstract：:The purpose of the article is to describe the optics of the contact wide-angle lens system with stereo-reinverter for vitreous surgery. A panoramic viewing system is made up of two components; an indirect ophthalmoscopy lens system for fundus image viewing, which is placed on the patient's cornea as a contact lens, an...
journal_title：Survey of ophthalmology
pub_type： 杂志文章,评审
doi：10.1016/j.survophthal.2004.04.010
更新日期：2004-07-01 00:00:00
abstract：:The abundant data about retinal tears has shown that they are prevalent in the general population and that the vast majority of retinal tears do not lead to retinal detachment. What remains to be clarified are the criteria for identifying the few retinal breaks which require prophylactic surgery to prevent their progr...
journal_title：Survey of ophthalmology
pub_type： 杂志文章,评审
doi：10.1016/0039-6257(80)90149-6
更新日期：1980-09-01 00:00:00
abstract：:The choroid is the vascular coat of the eye, and its role has been studied in multiple chorioretinal disorders. Recent advancements in choroidal imaging techniques, including enhanced depth imaging optical coherence tomography, swept source optical coherence tomography, en face optical coherence tomography, and optica...
journal_title：Survey of ophthalmology
pub_type： 杂志文章,评审
doi：10.1016/j.survophthal.2018.11.002
更新日期：2019-01-01 00:00:00
abstract：:A child with interstitial deletion of chromosome 17, right optic nerve hypoplasia, and impaired speech had bilateral congenital optic disc pigmentation, giving the appearance of gray optic discs. This appearance did not change over a period of two-and-a-half years. Previous cases of gray optic discs in neonates have b...
journal_title：Survey of ophthalmology
pub_type： 杂志文章,评审
doi：10.1016/0039-6257(89)90013-1
更新日期：1989-03-01 00:00:00
abstract：:Phosphorus (31P) nuclear magnetic resonance (NMR) represents a noninvasive technique for the assessment of ocular metabolism. The measurement of a spectrum of phosphorus-containing metabolites (e.g., phosphorylated sugars and ATP), including a number of heretofore uncharacterized metabolites, can be made with a single...
journal_title：Survey of ophthalmology
pub_type： 杂志文章
doi：10.1016/0039-6257(85)90063-3
更新日期：1985-11-01 00:00:00
abstract：:The effects of topical adrenergic agents on the tissue circulation of the optic nerve head (ONH) were studied in animal and human eyes with use of a laser speckle tissue circulation analyzer. Drugs studied were nipradilol, a beta1-2-blocker with weak alpha-blocking and nitroglycerinlike activities; bunazosin, a select...
journal_title：Survey of ophthalmology
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/s0039-6257(97)80027-6
更新日期：1997-11-01 00:00:00
abstract：:Congenital corneal anesthesia is a rare clinical entity that poses a diagnostic dilemma, particularly in the pediatric age group. The sensory deficit may be confined to the cornea, or extend to other divisions of the trigeminal nerve. The sensory deficit may occur as an isolated abnormality, as part of a complex neuro...
journal_title：Survey of ophthalmology
pub_type： 杂志文章,评审
doi：10.1016/j.survophthal.2006.10.004
更新日期：2007-01-01 00:00:00
abstract：:Adjunctive therapy for the management of glaucoma is commonly used. Unfixed combinations of the prostaglandin analog latanoprost and other glaucoma medications have been demonstrated to effectively lower intraocular pressure (IOP). The range of reported additional reductions in IOP compared to a monotherapy baseline a...
journal_title：Survey of ophthalmology
pub_type： 杂志文章,评审
doi：10.1016/s0039-6257(02)00295-3
更新日期：2002-08-01 00:00:00
abstract：:Topical treatment of ocular bacterial infection is practiced widely, and the choice of the antibacterial agent depends on the nature of the infection, including the susceptibility of the organism, the tissue affected, and the safety profile of the agent. Moxifloxacin is a fourth-generation fluoroquinolone approved for...
journal_title：Survey of ophthalmology
pub_type： 杂志文章,评审
doi：10.1016/j.survophthal.2005.05.003
更新日期：2005-11-01 00:00:00
abstract：:Lasers have become an indispensable tool in management of many ocular disorders. This review describes the principles of lasers and the effects various laser modalities and wavelength modalities can produce on ocular structure. Guidelines are provided for appropriate selection of various wavelengths and prevention of ...
journal_title：Survey of ophthalmology
pub_type： 杂志文章,评审
doi：10.1016/0039-6257(84)90244-3
更新日期：1984-03-01 00:00:00
