Abstract:
:Autosomal dominant hereditary optic atrophy (ADOA), also known as Kjer's syndrome, is a common hereditary cause of progressive bilateral vision loss. Recent advancements in the understanding of the genetics of this condition have revealed that a single gene may account for a large portion of the clinical manifestations in these patients. It has long been recognized that in a not-insignificant number of ADOA patients, a number of "plus" symptoms may follow decades after vision loss. It is important that clinicians recognize the potential link to "plus" manifestations. The goal of this manuscript is to provide for the general ophthalmologist a practical outline of the genetics and clinical manifestations of ADOA and the ADOA+.
journal_name
Semin Ophthalmoljournal_title
Seminars in ophthalmologyauthors
Skidd PM,Lessell S,Cestari DMdoi
10.3109/08820538.2013.825296subject
Has Abstractpub_date
2013-09-01 00:00:00pages
422-6issue
5-6eissn
0882-0538issn
1744-5205journal_volume
28pub_type
杂志文章,评审abstract::A seven-month-old male child was brought in for an eye test for poor vision and nystagmus noticed from four months of age. The child had delayed milestones of development and multiple (six times) episodes of unexplained lower respiratory tract infection (from two months of age) treated by pediatricians at different ce...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.3109/08820538.2013.835848
更新日期:2015-05-01 00:00:00
abstract:PURPOSE:To describe the clinical features of patients with Duane retraction syndrome (DRS) and evaluate the outcomes of surgical approaches based on the characteristics of each patient. METHODS:The records of 38 Caucasian subjects with DRS were retrospectively reviewed. The patients were classified as type I, II, or I...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.1080/08820538.2018.1554746
更新日期:2019-01-01 00:00:00
abstract::Glaucoma drainage devices are more frequently being used for glaucoma filtering surgeries, even those at low risk for failure with trabeculectomy. There are 4 major devices available: the Molteno, Baerveldt, Krupin, and Ahmed. The Molteno and Baerveldt are non-valved implants, while the Krupin and Ahmed are valved. Th...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章,评审
doi:10.3109/08820538.2010.518840
更新日期:2010-09-01 00:00:00
abstract::Subconjunctival prolapse of orbital fat is an uncommon clinical entity in which intraconal orbital fat herniates into the subconjunctival space. Its diagnosis is mainly clinical in character and usually based on palpation, patient clinical history, and lesion features along with a slit lamp examination. Its pathophysi...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.1080/08820538.2019.1576743
更新日期:2019-01-01 00:00:00
abstract::The management of a patient with a suspected posterior communicating artery aneurysm is discussed with emphasis on neuroimaging including magnetic resonance angiography (MRA), computed tomography angiography (CTA) and intra-arterial digital subtraction angiography (DSA). This paper underscores the advantages and disad...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章,评审
doi:10.1080/08820530801978534
更新日期:2008-05-01 00:00:00
abstract:PURPOSE:The purpose of this study is to evaluate the characteristics and publication outcomes of abstracts presented in American Academy of Ophthalmology (AAO) meetings. SUBJECT AND METHODS:Abstracts from AAO meetings for the years 2012 and 2013 were evaluated from the meeting archives. The study characteristics were ...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.1080/08820538.2019.1581819
更新日期:2019-01-01 00:00:00
abstract:PURPOSE:To assess amniotic membrane retention after amniotic membrane transplant in bullous keratopathy patients and whether there were any corneal structural changes that may hinder further penetrating keratoplasty Methods: A retrospective study including 22 patients who have undergone amniotic membrane transplant fro...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.1080/08820538.2019.1620790
更新日期:2019-01-01 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:INTRODUCTION:Vernal keratoconjunctivitis (VKC) is a bilateral multi-factorial disease. The pathogenesis of this disease is not obviously determined, but the role of various inflammatory cytokines has been specified. This study has provided a comparison between the level of interleukin-17 (IL17) in the serum and tears o...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.3109/08820538.2016.1170162
更新日期:2017-01-01 00:00:00
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 ge...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章,评审
doi:10.1080/08820530701745215
更新日期:2008-01-01 00:00:00
abstract:OBJECTIVE:To assess the efficacy and safety of a modified double extra sharp chopper for removal of hard cataracts. DESIGN:Prospective non-comparative interventional clinical study. PARTICIPANTS:Forty eyes from 25 patients with hard mature cataract grades 3-4. METHODS:The pre-modified Koch chopper was sharpened unde...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.3109/08820538.2010.482846
更新日期:2010-01-01 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: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::Purpose: To evaluate detailed corneal parameters of inflammatory bowel disease (IBD) patients, including Crohn's disease (CD) and ulcerative colitis (UC) patients, and to assess associations between anterior segment values and other clinical variables.Methods: This prospective cross-sectional case-control study at a t...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.1080/08820538.2019.1684525
更新日期:2019-01-01 00:00:00
abstract:PURPOSE:To report anterior segment features in unclassified anterior segment dysgenesis with overlapping features of Axenfeld-Rieger syndrome and other developmental anomalies. METHODS:This retrospective study included those with atypical or overlapping features in one or both eyes, which were identified as unclassifi...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章,评审
doi:10.1080/08820538.2016.1208767
更新日期:2018-01-01 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:BACKGROUND:To evaluate the success rates of endoscopic-assisted probing compared to conventional probing in children 48 months or older. METHODS:This retrospective study included children 48 months and older with CNLDO who underwent endoscopic-assisted probing or conventional probing between January 2011 to August 201...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.1080/08820538.2017.1284872
更新日期:2018-01-01 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::New translational research has paved the way for more optimistic management of melanoma. Medications targeting oncogenic signaling cascades and immune regulatory molecules have significantly improved overall survival for patients with metastatic melanoma. While isolated, operable orbital melanoma may still benefit fro...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章,评审
doi:10.3109/08820538.2015.1114849
更新日期:2016-01-01 00:00:00
abstract::Corneal neovascularization causes deterioration of visual acuity and increases surface irregularities. Various techniques have been employed to help control the progression of corneal neovascularization; bevacizumab is a medication that targets the specific pathway of corneal neovascularization. The Boston Ocular Surf...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.1080/08820530902802013
更新日期:2009-05-01 00:00:00
abstract::Retrospective analysis of epidemiological and clinical characteristics of patients diagnosed with benign essential blepharospasm and hemifacial spasm who reported to the oculoplasty clinic of a tertiary eye care center in north India between January 2010 and April 2015 was carried out. Dry eye, as well as all the loca...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.3109/08820538.2015.1096401
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND:Glaucoma is one of the leading causes of blindness worldwide. Treatment is still largely targeted at lowering intraocular pressure. Intraocular pressures can be lowered through a variety of topical medications, lasers and incisional surgeries. There are currently several classes of topical medications availa...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.1080/08820538.2020.1818796
更新日期:2020-08-17 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::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:PURPOSE:To identify the patterns of ocular injury and to determine ocular morbidity resulting from the use of firecrackers. METHODS:A prospective observational study of all patients presenting with ocular trauma consequent to fireworks usage in a tertiary eye care center in South India over a one-month period around t...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.3109/08820538.2014.962157
更新日期:2016-01-01 00:00:00
abstract:PURPOSE:To assess changes in lymphatic vessels, collagen, and elastic fiber structure in excised tissues with dermatochalasis (DC). METHODS:In this prospective histopathological study, 70 upper eyelid skins of 35 patients operated on for dermatochalasis were compared with 10 eyelid skins of 10 patients operated on for...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.1080/08820538.2017.1282970
更新日期:2018-01-01 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::A 50-year-old man presented with uncontrolled erythroclastic glaucoma and recurrent vitreous hemorrhage from a previously irradiated choroidal melanoma. Despite trabeculectomy, intraocular pressure became uncontrolled due to increasing bleeding from the melanoma. The vitreous hemorrhage became voluminous and could not...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章
doi:10.1080/08820530801894467
更新日期:2008-03-01 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:PURPOSE:To compare the efficacy of combined manual small incision cataract and glaucoma surgery with anterior chamber maintainer (ACM) alone versus that with intraoperative viscoelastics. METHODS:Hospital electronic medical records of patients who underwent small incision cataract and trabeculectomy and intraocular le...
journal_title:Seminars in ophthalmology
pub_type: 杂志文章,评审
doi:10.1080/08820538.2017.1339092
更新日期:2018-01-01 00:00:00