Abstract:
:Mitochondrial diseases frequently manifest neuro-ophthalmologic symptoms and signs. Because of the predilection of mitochondrial disorders to involve the optic nerves, extraocular muscles, retina, and even the retrochiasmal visual pathways, the ophthalmologist is often the first physician to be consulted. Disorders caused by mitochondrial dysfunction can result from abnormalities in either the mitochondrial DNA or in nuclear genes which encode mitochondrial proteins. Inheritance of these mutations will follow patterns specific to their somatic or mitochondrial genetics. Genotype-phenotype correlations are inconstant, and considerable overlap may occur among these syndromes. The diagnostic approach to the patient with suspected mitochondrial disease entails a detailed personal and family history, careful ophthalmic, neurologic, and systemic examination, directed investigations, and attention to potentially life-threatening sequelae. Although curative treatments for mitochondrial disorders are currently lacking, exciting research advances are being made, particularly in the area of gene therapy. Leber hereditary optic neuropathy, with its window of opportunity for timely intervention and its accessibility to directed therapy, offers a unique model to study future therapeutic interventions. Most patients and their relatives benefit from informed genetic counseling.
journal_name
Surv Ophthalmoljournal_title
Survey of ophthalmologyauthors
Fraser JA,Biousse V,Newman NJdoi
10.1016/j.survophthal.2009.10.002subject
Has Abstractpub_date
2010-07-01 00:00:00pages
299-334issue
4eissn
0039-6257issn
1879-3304pii
S0039-6257(09)00266-5journal_volume
55pub_type
杂志文章,评审abstract::Epidermal growth factor (EGF) is a naturally occurring mitogen which, in its recombinant form, is under intensive investigation for therapeutic use. Receptor activation by EGF induces up-regulation of synthesis of specific proteins as well as proliferation and differentiation of the corneal epithelium, keratocytes, an...
journal_title:Survey of ophthalmology
pub_type: 杂志文章,评审
doi:10.1016/0039-6257(90)90127-h
更新日期:1990-05-01 00:00:00
abstract::Because of its uniqueness, the eye has long been a favored site for immunological study. It is a highly active tissue immunologically, with virtually all types of immune reactions present. This article reviews the ocular immune response, chorioretinal diseases with immunologic features, and immunology of ocular tumors...
journal_title:Survey of ophthalmology
pub_type: 杂志文章,评审
doi:10.1016/0039-6257(81)90155-7
更新日期:1981-03-01 00:00:00
abstract::It is generally accepted that postoperatively radiographic examinations be limited to the area of pathology. The patient presented here complained of visual difficulties two years after transphenoidal removal of a pituitary prolactinoma. His endocrinologist ordered what he believed to be the appropriate computed tomog...
journal_title:Survey of ophthalmology
pub_type: 杂志文章
doi:10.1016/0039-6257(85)90090-6
更新日期:1985-07-01 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::Retinitis pigmentosa (RP) is a form of inherited night blindness. Over decades, various dubious treatment strategies that lacked sufficient theoretically sound underpinnings were explored. Initially they were enthusiastically promoted and subsequently discredited. It is apparent that many were predicated on the errone...
journal_title:Survey of ophthalmology
pub_type: 历史文章,杂志文章
doi:10.1016/j.survophthal.2013.04.002
更新日期:2013-11-01 00:00:00
abstract::There are numerous unresolved issues and controversies regarding the management of open-globe injuries involving the posterior segment. These areas include, but are not limited to, the following issues. Although vitrectomy has been shown to improve visual outcomes and allow retention of the eye in many cases, the exte...
journal_title:Survey of ophthalmology
pub_type: 杂志文章,评审
doi:10.1016/s0039-6257(99)00104-6
更新日期:1999-11-01 00:00:00
abstract::Seventy percent of the blood flow to the eye goes to the choroid, a structure that is vitally important to the function of the retina. The in vivo structure of the choroid in health and disease is incompletely visualized with traditional imaging modalities, including indocyanine green angiography, ultrasonography, and...
journal_title:Survey of ophthalmology
pub_type: 杂志文章,评审
doi:10.1016/j.survophthal.2012.12.001
更新日期:2013-09-01 00:00:00
abstract::The endothelium influences local vascular tone by releasing endothelium-derived relaxing factors such as nitric oxide, prostacyclin and a putative hyperpolarizing factor. In isolated ophthalmic arteries and the perfused eye, all endothelial factors importantly contribute to vascular regulation. In larger ophthalmic ve...
journal_title:Survey of ophthalmology
pub_type: 杂志文章,评审
doi:10.1016/0039-6257(94)90157-0
更新日期:1994-09-01 00:00:00
abstract::A 47-year-old man presented with sudden visual loss, optic disk edema, retinal ischemia, and limited upgaze in the left eye. Initial MRI revealed thickened, enhancing left optic nerve. Extensive work-up for an inflammatory and infiltrative etiology was positive only for Borrelia burgdorferi IgM by Western blot. Six we...
journal_title:Survey of ophthalmology
pub_type: 杂志文章
doi:10.1016/j.survophthal.2013.12.003
更新日期:2014-09-01 00:00:00
abstract::The use of intravitreal (IVT) corticosteroids for treatment of posterior segment diseases has increased significantly over the last decade. A commonly recognized complication of IVT steroids is secondary ocular hypertension (OHT) that can occur immediately secondary to direct intraocular volume increase or weeks to mo...
journal_title:Survey of ophthalmology
pub_type: 杂志文章,meta分析,评审
doi:10.1016/j.survophthal.2012.08.003
更新日期:2013-07-01 00:00:00
abstract::Transcorneal drug transport is normally limited by the intrinsic permeation characteristics of the corneal epithelium. However, liposomes, i.e., phospholipid vesicles composed of phospholipid membranes, have recently attracted attention as carriers of topically applied agents. The present study therefore describes a q...
journal_title:Survey of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0039-6257(05)80068-2
更新日期:1995-05-01 00:00:00
abstract::At the time of the American Revolution, understanding of diseases of the eye was rudimentary, treatment of ocular problems was largely ineffective, and American physicians were highly dependent on their European colleagues for training and development. Knowledge of optics, light and color was somewhat more advanced. T...
journal_title:Survey of ophthalmology
pub_type: 传,历史文章,杂志文章
doi:10.1016/0039-6257(77)90028-5
更新日期:1977-07-01 00:00:00
abstract::Glutamatergic excitotoxicity has been implicated as a mechanism for injury in a variety of central nervous system pathologies, including glaucoma. Memantine, an NMDA-type glutamatergic open-channel blocker, has pharmacologic properties that make its efficacy greater under excitotoxic conditions, but lesser under norma...
journal_title:Survey of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0039-6257(01)00200-4
更新日期:2001-05-01 00:00:00
abstract::Several Greek and Byzantine sovereigns are known in history by nicknames that are of ophthalmologic origin; the sobriquets derive from characteristics of their eyes or their actions in relation to the eyes. The first was Antigonos I Monophthalmus (the One-eyed), who was the most eminent successor of Alexander the Grea...
journal_title:Survey of ophthalmology
pub_type: 历史文章,杂志文章
doi:10.1016/s0039-6257(99)00039-9
更新日期:1999-07-01 00:00:00
abstract::Latent herpes simplex virus (HSV) is known to reside in the trigeminal ganglia. Our studies show that the temporary retrobulbar disruption of trigeminal nerve function in chronically infected animals caused a striking decrease in the number of positive HSV cultures obtained during the 20 weeks immediately following su...
journal_title:Survey of ophthalmology
pub_type: 杂志文章
doi:10.1016/0039-6257(76)90098-9
更新日期:1976-09-01 00:00:00
abstract::Orbital aspergillosis is an uncommon but serious infection that may first present to the ophthalmologist. Usually arising from the paranasal sinuses, it may present in manifold ways within the orbit. Some presentations, such as optic nerve involvement, can respond to systemic corticosteroids, leading to delays in diag...
journal_title:Survey of ophthalmology
pub_type: 杂志文章,评审
doi:10.1016/s0039-6257(96)80004-x
更新日期:1996-09-01 00:00:00
abstract::The pathogenesis of many anterior segment disorders and ocular complications following surgery are secondary to the wound healing response. The extent of clinical damage observed is closely related to the amount of scarring and tissue contraction. Matrix metalloproteinases (MMPs) are a family of enzymes that play a vi...
journal_title:Survey of ophthalmology
pub_type: 杂志文章,评审
doi:10.1016/s0039-6257(02)00287-4
更新日期:2002-05-01 00:00:00
abstract::A 20-year-old Hispanic man with Down syndrome presented with progressively worsening headache, fluctuating decreased vision, and bilateral optic disk edema. Magnetic resonance imaging of the head showed an empty sella, and magnetic resonance venography showed thrombosis of left transverse and sigmoid sinuses. Catheter...
journal_title:Survey of ophthalmology
pub_type: 杂志文章
doi:10.1016/j.survophthal.2012.10.005
更新日期:2013-11-01 00:00:00
abstract::Conjunctivochalasis, defined as a redundant conjunctiva typically located between the globe and the lower eyelid, is not uncommon. However, it is often overlooked, as it may be considered a normal senile change. Conjunctivochalasis can cause a spectrum of symptoms, ranging from aggravation of a dry eye at the mild sta...
journal_title:Survey of ophthalmology
pub_type: 杂志文章,评审
doi:10.1016/s0039-6257(98)00037-x
更新日期:1998-11-01 00:00:00
abstract::Angiogenesis is a complex biologic process that occurs normally in development and in turnover and remodeling of mature vascular networks. Pathological angiogenesis and neovascularization occur in association with retinal and ocular ischemic diseases, in retinopathy of prematurity and other developmental disorders, an...
journal_title:Survey of ophthalmology
pub_type: 杂志文章,评审
doi:10.1016/s0039-6257(96)82014-5
更新日期:1996-05-01 00:00:00
abstract::The light and electron microscopic findings are reviewed in two patients who had eyes enucleated for peripheral choroidal malignant melanomas. Preoperatively, cystoid macular edema was documented by fluorescein angiography in the melanoma-containing eye in both patients. Intracytoplasmic swelling (edema) of the Müller...
journal_title:Survey of ophthalmology
pub_type: 杂志文章
doi:10.1016/0039-6257(84)90233-9
更新日期:1984-05-01 00:00:00
abstract::A 56-year-old woman presented with a unilateral ptosis induced by a nonembedded soft contact lens of approximately 2 years' duration. The unilateral ptosis most likely resulted form localized inflammation and the physical presence of the soft contact lens. The patient's symptoms resolved completely after double lid ev...
journal_title:Survey of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0039-6257(98)00029-0
更新日期:1998-09-01 00:00:00
abstract::An analytical review of the data available in the field of phakic intraocular lens implantation was conducted. Particular attention was paid to the more critical issues of intraocular lens sizing and safety guidelines. A comprehensive, competitive analysis of different implantation sites, intraocular lens model design...
journal_title:Survey of ophthalmology
pub_type: 杂志文章,评审
doi:10.1016/j.survophthal.2005.08.011
更新日期:2005-11-01 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::A 24-year-old man experienced the sudden onset of a painless superior-temporal visual field defect of the left eye. Fundoscopy showed peripapillary pigmentary changes and a few nasal retinal white spots. Automated perimetry demonstrated an enlarged blind spot. The differential diagnosis of the various presumed inflamm...
journal_title:Survey of ophthalmology
pub_type: 杂志文章
doi:10.1016/j.survophthal.2004.12.003
更新日期:2005-03-01 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::Unknown to the Western hemisphere, a Polish scientist, naturalist, anatomist, physiologist, philosopher and optician, Witelo, wrote an important ten volume manuscript, Peri-Optikes, usually cited in the literature as Perspectiva. This classic textbook was first published in 1535 in Nuremberg under the title: Vitellion...
journal_title:Survey of ophthalmology
pub_type: 传,历史文章,杂志文章
doi:10.1016/s0039-6257(96)80028-2
更新日期:1996-11-01 00:00:00
abstract::Benjamin Franklin, who died 200 years ago, is generally credited with the invention of bifocals. However, serious historians have from time to time produced evidence to suggest that others may have preceded him in the invention. This historical article includes correspondence from George Whatley, a London philanthropi...
journal_title:Survey of ophthalmology
pub_type: 传,历史文章,杂志文章
doi:10.1016/0039-6257(90)90092-a
更新日期:1990-11-01 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::Optical coherence tomography angiography (OCTA) is a new, noninvasive imaging technique that generates real-time volumetric data on chorioretinal vasculature and its flow pattern. With the advent of high-speed optical coherence tomography, established enface chorioretinal segmentation, and efficient algorithms, OCTA g...
journal_title:Survey of ophthalmology
pub_type: 杂志文章,评审
doi:10.1016/j.survophthal.2017.05.006
更新日期:2017-01-01 00:00:00