Abstract:
:Leber congenital amaurosis (LCA) is a congenital retinal dystrophy that was first described almost 150 years ago. LCA still remains an important cause of blindness with about 20% of children in schools for the blind being affected by it. LCA has genetic heterogeneity and the study of this disease is elucidating the genetics and molecular interactions involved in the development of the retina. This paper reviews the clinical history of the disease since it was first described. We further discuss the differential diagnosis of the disease and the difficulties encountered in making the diagnosis. We also review the genetics of the disease and the role of future therapies.
journal_name
Semin Ophthalmoljournal_title
Seminars in ophthalmologyauthors
Ahmed E,Loewenstein Jdoi
10.1080/08820530701745215subject
Has Abstractpub_date
2008-01-01 00:00:00pages
39-43issue
1eissn
0882-0538issn
1744-5205pii
789915044journal_volume
23pub_type
杂志文章,评审abstract::Acute acquired comitant esotropia (AACE) is characterized by a sudden-onset eye misalignment with an equal angle of deviation in all fields of gaze. This form of esotropia is distinct from common forms of childhood esotropia, such as infantile esotropia and accommodative esotropia, in the rapid tempo and typically lat...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章,评审
doi:10.1080/08820538.2016.1228398
更新日期:2017-01-01 00:00:00
abstract:PURPOSE:To investigate thickness of the retinal nerve fiber layer (RNFL) and choroid thickness in patients with pseudoexfoliation syndrome (PEX) and pseudoexfoliation glaucoma (PXG) compared to healthy volunteers. METHODS:This cross-sectional, prospective study included 43 patients with PXG, 45 patients with PEX syndr...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.3109/08820538.2015.1090611
更新日期:2017-01-01 00:00:00
abstract:PURPOSE:Evaluating the ocular manifestation and fundus fluorescein angiography (FA) findings of patients with Behçet's disease as well as the relationship between visual acuity and angiographic findings. METHODS:Retrospective chart review of patients with Behçet's disease seen at the Farabi Eye Hospital. RESULTS:Fort...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.1080/08820538.2016.1178310
更新日期:2017-01-01 00:00:00
abstract::The lacrimal caruncle is a modified cutaneous tissue that contains hair follicles, accessory lacrimal glands, sweat glands, lobules of fat, and sebaceous glands. Due to the nature of tissue, a variety of lesions, both benign and malignant, could arise from this area. Lymphomas of the eye and its adnexa are frequently ...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.3109/08820538.2013.833260
更新日期:2015-03-01 00:00:00
abstract::Purposes: To evaluate the accuracy of Ophtha Top and consistency between Ophtha Top and IOLMaster 500 in intraocular lens refractive power calculation among cataract patients with normal and long axial lengths. Methods: This study included cataract patients scheduled for phacoemulsification and IOL implantation surger...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.1080/08820538.2020.1871033
更新日期:2021-01-17 00:00:00
abstract:OBJECTIVE:Investigate risk factors for unplanned return to the operating room after resident-performed cataract surgery. DESIGN:Retrospective case-control study. SETTING:Institutional. METHODS:Study population: All patients with reoperation within 90 days of resident-performed phacoemulsification were matched to fou...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.1080/08820538.2016.1208760
更新日期:2018-01-01 00:00:00
abstract::Evaluation of patients after trabeculectomy can be aided by the use of anterior segment imaging. Two commonly used forms of imaging are ultrasound biomicroscopy (UBM) and optical coherence tomography (OCT). Both modalities can be used to assess bleb morphology and how it affects treatment outcome, measure anterior cha...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章,评审
doi:10.3109/08820538.2012.707275
更新日期:2012-09-01 00:00:00
abstract::Cosmetic eyelid surgery has benefited from the use of the carbon dioxide laser. The short pulsed laser cuts through tissue with limited surrounding thermal damage, resulting in incisions that heal with minimal scarring comparable to traditional cold steel methods. The laser provides excellent hemostasis, which shorten...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章,评审
doi:10.3109/08820539809066084
更新日期:1998-09-01 00:00:00
abstract:PURPOSE:To report a case of fungal corneal ulcer and bacterial orbital cellulitis as complications of bacterial endophthalmitis following cataract surgery. METHODS:A 51-year-old man underwent anterior chamber irrigation and aspiration in the left eye one day after cataract surgery because of bacterial endophthalmitis....
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.3109/08820538.2012.760613
更新日期:2013-03-01 00:00:00
abstract::Age-related macular degeneration (AMD) is a progressive degenerative disease which leads to blindness, affecting the quality of life of millions of Americans. More than 1.75 million individuals in the United States are affected by the advanced form of AMD. The etiological pathway of AMD is not yet fully understood, bu...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章,评审
doi:10.3109/08820538.2011.577129
更新日期:2011-05-01 00:00:00
abstract:PURPOSE:To evaluate the outcomes of patients with vitreomacular traction syndrome (VMT) treated with triamcinolone acetonid (TA) assisted 23-gauge (23-G) transconjunctival sutureless vitrectomy. METHODS:Restrospective, case series. The medical charts of 13 eyes of 13 consecutive patients with VMT who underwent 23-gaug...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.3109/08820538.2012.680640
更新日期:2012-05-01 00:00:00
abstract:PURPOSE:To describe the in-vivo confocal microscopy corneal findings in a patient with bilateral corneal deposits caused by an underlying monoclonal gammopathy. METHODS:A 68-year-old man came to our center for an ophthalmologic examination. Besides visual acuity, the examination included slit-lamp biomicroscopy, intra...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.3109/08820538.2012.730102
更新日期:2013-01-01 00:00:00
abstract::Congenital grouped albinotic retinal pigment epithelial spots (CGARPES) is a rare retinal pigment epithelium disease with multiple, white spots, generally involving the peripheral retina, with variable angiographic pattern. A 46-year-old male affected by CGARPES underwent fluorescein angiography and indocyanine green ...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.1080/08820530490882670
更新日期:2004-09-01 00:00:00
abstract:PURPOSE:To evaluate vision-related quality of life in patients with chronic central serous chorioretinopathy (CSCR). DESIGN:Prospective, cross-sectional study. METHODS:The interviewer-administered National Eye Institute visual function questionnaire (NEI-VFQ-25) was used in 30 adult consecutive patients with chronic ...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.3109/08820538.2013.839818
更新日期:2015-07-01 00:00:00
abstract::Ophthalmology, like any other clinical science, is constantly evolving. As our knowledge in this field expands, we enumerate and describe classical triads of symptoms or signs with relevance to ophthalmology in this article. Characteristic clinical triads for certain systemic conditions with ocular implications are al...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章,评审
doi:10.3109/08820538.2015.1045150
更新日期:2017-01-01 00:00:00
abstract::Guillain-Barre syndrome (GBS) is characterized by an ascending muscle paralysis with progressive loss of muscle stretch reflexes. Annually, approximately 2.4 cases per 100,000 population of GBS are reported. Variant forms do exist. These include the Fisher syndrome, GBS with ophthalmoplegia, Bickerstaff's brainstem en...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.1080/08820530601006775
更新日期:2006-10-01 00:00:00
abstract:PURPOSE:To demonstrate the ability of ultra wide-field fundus imaging to document the response to treatment of a choroidal metastatic lesion from primary breast carcinoma. DESIGN:Observational case report. METHODS:A 45 year old female with a history of metastatic breast cancer and progressive vision loss in the right...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.1080/08820530802520194
更新日期:2009-01-01 00:00:00
abstract::Retinopathy of prematurity is marked by the proliferative vascularization of the retina in preterm babies. An understanding of the molecular pathogenesis of ROP provides the basis for identifying novel therapeutic targets for treatment. Using the mouse model of oxygen-induced retinopathy, the roles of the hypoxia indu...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章,评审
doi:10.1080/08820530902800314
更新日期:2009-03-01 00:00:00
abstract:OBJECTIVE:We would like to describe a case report of posterior ischemic optic neuropathy (PION) misdiagnosed as arteritic PION with presumed GCA which leads to missing the correct diagnosis with fatal outcome. METHODS:The clinical course of a single patient will be described including presentation, testing,diagnosis a...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.3109/08820530903392902
更新日期:2009-11-01 00:00:00
abstract:PURPOSE:To report the infrequent complications, including antielevation and adherence syndrome, after a unilateral and bilateral inferior oblique (IO) recession procedure and to discuss the possible causes. METHODS:A retrospective chart review was conducted for patients on whom unilateral or bilateral IO weakening sur...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.3109/08820538.2015.1132332
更新日期:2017-01-01 00:00:00
abstract:PURPOSE:Vascular anomalies comprise malformations, hemangiomas, and rare tumors. The commonality among these lesions is their origin in vascular endothelia. Most occur sporadically, but occasional inheritance is observed and thus allows genetic research and insight into etiology. This review highlights those vascular a...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章,评审
doi:10.3109/08820538.2013.825279
更新日期:2013-09-01 00:00:00
abstract::Several new aqueous inflow inhibitors have been introduced over the past few years. These new agents include two alpha agonists, two topical carbonic anhydrase inhibitors, and a novel combination agent. All of these agent compare favorably with timolol in terms of aqueous suppression, though each has its own relative ...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章,评审
doi:10.3109/08820539909061469
更新日期:1999-09-01 00:00:00
abstract::Hereditary ectopia lentis or lens subluxation can occur with and without systemic associations. Significant overlap can be found in the genetic mutations and pathogenesis of subluxated lenses in their isolated forms as well as with associated syndromes. Gene mutations have been identified for lens subluxation associat...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章,评审
doi:10.3109/08820538.2013.825276
更新日期:2013-09-01 00:00:00
abstract:PURPOSE:To evaluate, by ultrasound biomicroscopy (UBM), changes in scleral thickness after ruthenium-106 CCB and CCC plaque (Eckert & Ziegler BE-BIG GmbH, Berlin, Germany) therapy for anterior ciliary melanoma. METHODS:Eleven patients with anterior ciliary melanoma underwent ruthenium-106 CCB and CCC plaque radiation ...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.1080/08820538.2017.1346131
更新日期:2018-01-01 00:00:00
abstract::Diabetic retinopathy is one of the most serious complications of chronic diabetes mellitus and is the leading cause of blindness in working-age populations. Large, randomized studies have demonstrated the benefits of systemic and ocular therapy in the prevention and treatment of diabetic retinopathy. The process of an...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章,评审
doi:10.3109/08820538.2013.859280
更新日期:2015-07-01 00:00:00
abstract::This review summarizes the advantages of Small-incision lenticule extraction (SMILE), including improved patient intraoperative experience, improved postoperative ocular surface, low incidence of regression, low re-treatment rates, and advantageous biomechanical corneal stability. Visual and refractive outcomes are si...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.1080/08820538.2020.1807028
更新日期:2020-05-18 00:00:00
abstract::The purpose was to investigate the effect of decentered ablation in myopic corneal refractive surgery by simulation. Wavefront aberrations in a small pupil area (radius: 2 mm) for photopic vision and in a large pupil area (radius: 3 mm) for mesopic vision with simulated refractive surgery were analyzed using Zernike p...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.1076/soph.18.1.41.14071
更新日期:2003-03-01 00:00:00
abstract::Lymphomatoid papulosis (LyP) is a chronic papulonecrotic or papulonodular skin disease, with histological features suggestive of malignant lymphoma. It was originally described by Macauley (1968) as a "self-healing paradoxical eruption, histologically malignant but clinically benign." Unless accompanied by systemic ...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.3109/08820538.2012.680643
更新日期:2013-01-01 00:00:00
abstract:INTRODUCTION:The purpose of this paper is to perform a systematic review of the published literature on complications of intra-arterial chemothrapy (IAC) for the treatment of retinoblastoma. MATERIALS AND METHODS:A literature search was performed using the Pubmed database using the terms. Complications were divided in...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章,评审
doi:10.3109/08820538.2014.959188
更新日期:2014-09-01 00:00:00
abstract:PURPOSE:The purpose of this study was to evaluate the quality of life in patients with age-related macular degeneration (AMD) and compare it with that of healthy controls. Additionally, our study aims to investigate the possible risk factors for poor quality of life in AMD patients. METHODS:Participants in the study w...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.1080/08820538.2016.1181192
更新日期:2017-01-01 00:00:00