Abstract：
:Leber's hereditary optic neuropathy is caused by a single nucleotide change in the mitochondrial deoxyribonucleic acid (mtDNA). Each cell contains thousands of mitochondrial DNA molecules. We demonstrated that in certain isolated instances, the proband and close maternal lineage relatives can have mixtures of mutant and normal mitochondrial DNA molecules (heteroplasmy). The proportion of mutant mitochondrial DNA molecules was found to shift markedly across generations and within the tissues of an individual. One unaffected mother had 65% mutant mitochondrial DNA molecules whereas her affected son had essentially 100% mutant mitochondrial DNA molecules. Two affected individuals had predominantly mutant mitochondrial DNA in their blood, but significant normal mitochondrial DNA in their hair. The demonstration of heteroplasmy within maternal lineages and affected individuals means that the successful determination of the mitochondrial DNA genotype of a family or patient with Leber's hereditary optic neuropathy requires testing of more than one family member and more than one tissue from each individual.
journal_name
Am J Ophthalmoljournal_title
American journal of ophthalmologyauthors
Lott MT,Voljavec AS,Wallace DCdoi
10.1016/s0002-9394(14)72429-8subject
Has Abstractpub_date
1990-06-15 00:00:00pages
625-31issue
6eissn
0002-9394issn
1879-1891pii
S0002-9394(14)72429-8journal_volume
109pub_type
杂志文章abstract：:Eight patients with severe traumatic hyphemas underwent clot evacuation with vitrectomy instrumentation. The patients were followed up for periods of one to four years. No significant intraoperative complications were noted, but one eye developed a postoperative flat anterior chamber and another developed multiple sta...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(79)90574-9
更新日期：1979-11-01 00:00:00
abstract：PURPOSE:To report on a case of acute transient myopia associated with ciliochoroidal detachment induced by indapamide. METHOD:Case report. Clinical examination, ultrasonography, and fluorescein angiography were performed during the acute phase of disease and convalescence. RESULTS:After indapamide was discontinued, a...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(99)00402-x
更新日期：2000-04-01 00:00:00
abstract：:Prostaglandins E1, E2, D2, A1, F1alpha, and F2alpha as well as synthetic chemoattractants and growth factors were tested for their ability to induce the proliferation of new blood vessels in the rabbit cornea. PGE1 showed the strongest neovasculogenic activity attracting new blood vessels in all of the cases. PGE2 was...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(78)90289-1
更新日期：1978-10-01 00:00:00
abstract：PURPOSE:To characterize features of glaucoma associated with a TANK binding kinase 1 (TBK1) gene duplication, which is among the most common molecularly defined causes of normal tension glaucoma (NTG). DESIGN:Retrospective observational case series. METHODS:We conducted a retrospective case series, by reviewing medic...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2020.01.017
更新日期：2020-06-01 00:00:00
abstract：PURPOSE:To highlight the possible role of indocyanine green angiography in predicting future exudative changes in eyes that are candidates for drusen laser treatment. METHODS:In a 56-year-old woman, fluorescein and indocyanine green angiography were performed before drusen laser treatment. RESULTS:The treated eye had...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)70875-x
更新日期：1997-10-01 00:00:00
abstract：PURPOSE:To perform a cross-sectional study on the distribution of central corneal thickness and its association with intraocular pressure in an elderly population. METHODS:We measured central corneal thickness and intraocular pressure in 395 subjects (352 control subjects, 13 patients with ocular hypertension, and 30 ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)71125-0
更新日期：1997-06-01 00:00:00
abstract：PURPOSE:To determine whether residual hyperopia could be corrected postoperatively using the light adjustable lens technology in patients undergoing cataract surgery and light adjustable lens implantation. DESIGN:Prospective, nonrandomized clinical trial. METHODS:Fourteen eyes of 14 patients were studied. The manifes...
journal_title：American journal of ophthalmology
pub_type： 临床试验,杂志文章
doi：10.1016/j.ajo.2008.08.039
更新日期：2009-03-01 00:00:00
abstract：PURPOSE:To compare the demographics and ocular characteristics, including anterior segment optical coherence tomography images and zonular instability, in eyes with a history of acute angle closure (AAC) attack and subsequent cataract surgery. DESIGN:Retrospective case-control study. METHODS:A total of 68 eyes of 56 ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2017.09.003
更新日期：2017-11-01 00:00:00
abstract：PURPOSE:To identify factors related to graft rejection following Descemet stripping automated endothelial keratoplasty (DSAEK) in the Cornea Preservation Time Study (CPTS). DESIGN:Cohort study within a multicenter randomized clinical trial. METHODS:A total of 1330 eyes of 1090 subjects undergoing DSAEK were randomize...
journal_title：American journal of ophthalmology
pub_type： 杂志文章,多中心研究,随机对照试验
doi：10.1016/j.ajo.2018.10.005
更新日期：2018-12-01 00:00:00
abstract：:We used peripheral retinal cryopexy to treat 20 eyes in 15 patients with subtotal vitreous hemorrhage secondary to proliferative diabetic retinopathy. In 18 eyes, complete panretinal photocoagulation had been performed before the subtotal vitreous hemorrhage and the subsequent cryopexy. The length of follow-up average...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(88)90301-7
更新日期：1988-04-15 00:00:00
abstract：:Gonioscopy was performed on 110 patients with primary open-angle glaucoma over 40 years of age and an equal number of normal sugjects, matched by race and age. The frequency distribution of various angle features differed in the two groups: in the glaucoma group, there were more iris processes at all levels of inserti...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(75)90869-7
更新日期：1975-07-01 00:00:00
abstract：PURPOSE:To evaluate corneal higher-order aberrations induced by overnight orthokeratology for myopia. DESIGN:Prospective, noncomparative, consecutive, interventional case series. METHODS:A prospective study was conducted in 64 eyes of 39 patients with overnight orthokeratology for myopia, who were followed up for at ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2004.10.006
更新日期：2005-03-01 00:00:00
abstract：PURPOSE:To report complications of cosmetic artificial iris implantation and explantation outcomes. SETTING:Stein Eye Institute DESIGN: : Retrospective case series METHODS: : Review of medical records of 12 patients (24 eyes) who presented to us after being implanted with cosmetic artificial irises elsewhere. Data col...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2021.01.005
更新日期：2021-01-22 00:00:00
abstract：PURPOSE:To describe a case of severe dry eye syndrome in a child. METHODS:Observational case report. The authors describe a 10-year-old male with severe dry eyes who was profoundly disabled by pain and photophobia despite aggressive conventional therapy. Lacrimal gland histology was consistent with the primary Sjögren...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(01)01182-5
更新日期：2001-12-01 00:00:00
abstract：:Twenty-two fine needle (30 gauge) aspirations were performed in eyes enucleated for the clinical diagnosis of melanoma. Cytologic preparations were evaluated for adequacy of material, and needle tracts were evaluated for tumor implantation. A scleral marking method was used to identify all needle tracts. The number of...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(88)90248-6
更新日期：1988-05-15 00:00:00
abstract：PURPOSE:To describe ocular motility in patients having genetically characterized dominant cerebellar ataxia. DESIGN:Observational case series. METHOD:Nine ataxic adults having the following molecular genetic diagnoses underwent ophthalmic examination and ocular motility recordings: four with spinocerebellar ataxia ty...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(02)01328-4
更新日期：2002-05-01 00:00:00
abstract：PURPOSE:To determine the amount and time course of binocular visual acuity improvement during treatment of bilateral refractive amblyopia in children three to less than 10 years of age. DESIGN:Prospective, multicenter, noncomparative intervention. METHODS:One hundred and thirteen children (mean age, 5.1 years) with p...
journal_title：American journal of ophthalmology
pub_type： 杂志文章,多中心研究
doi：10.1016/j.ajo.2007.05.040
更新日期：2007-10-01 00:00:00
abstract：PURPOSE:Autosomal recessive congenital fibrosis of the extraocular muscles (CFEOM2) has been described in families from Saudi Arabia. Affected individuals have ptosis and exotropic ophthalmoplegia, and their disease has been mapped to chromosome 11q13. Here, we describe the phenotypic findings in a similarly affected Y...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(99)00467-5
更新日期：2000-05-01 00:00:00
abstract：PURPOSE:To report unusual fundus findings in two cases of melanoma-associated retinopathy. METHODS:Observational case reports. The histories of two patients with melanoma-associated retinopathy were reviewed. Sera from both patients were examined for antibodies against retinal bipolar cells. Immunofluorescence was per...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(01)00915-1
更新日期：2001-08-01 00:00:00
abstract：PURPOSE:To evaluate the beneficial effect of intravenous thrombolysis aiming at rapid restoration of blood flow during the early hours of a central retinal artery occlusion (CRAO). DESIGN:Interventional case series. METHODS:In the present study, we prospectively evaluated the visual outcome after thrombolytic treatme...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2008.06.016
更新日期：2008-11-01 00:00:00
abstract：:We performed visual contrast sensitivity testing with Regan's low-contrast letter charts on 30 patients with optic neuropathies and good Snellen visual acuity. Results of this testing were compared with color vision and the presence of an afferent pupillary defect. Regan's low-contrast letter charts were found to be 9...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(88)90176-6
更新日期：1988-02-15 00:00:00
abstract：PURPOSE:To provide evidence that corticosteroid-induced ocular hypertension has a genetic component. DESIGN:Evidence-based perspective. METHODS:We conducted a comprehensive literature search for studies exploring genetic influences on intraocular pressure responses to corticosteroid treatment. RESULTS:Studies demons...
journal_title：American journal of ophthalmology
pub_type： 杂志文章,评审
doi：10.1016/j.ajo.2019.02.001
更新日期：2019-06-01 00:00:00
abstract：PURPOSE:To determine photoreceptor oxidative stress and damage in sympathetic ophthalmia (SO). DESIGN:Immunohistologic study. METHODS:Eight formalin-fixed and paraffin-embedded human globes with typical histologic features of SO and five age-matched globes without intraocular inflammation (controls) were retrieved fr...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2008.03.026
更新日期：2008-12-01 00:00:00
abstract：PURPOSE:To compare tear film thickness between normal subjects and aqueous tear deficiency dry eye patients by tear interferometry. DESIGN:Prospective case-control study. METHODS:Central precorneal tear film thickness was measured noninvasively using an interference thin-film thickness measurement device (Quore MSPA1...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2010.07.019
更新日期：2011-01-01 00:00:00
abstract：PURPOSE:To report the spontaneous resolution of a traumatic macular hole that was considerably larger than in previously reported cases. DESIGN:Observational case report. METHODS:The clinical and angiographic data of the patient were reviewed. RESULTS:A traumatic 600 x 400 micro macular hole was observed to spontane...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(02)01594-5
更新日期：2002-10-01 00:00:00
abstract：PURPOSE:To identify whether and how outcomes of macular hole (MH) surgery are influenced by the extent of internal limiting membrane (ILM) peeling. DESIGN:Randomized clinical trial. METHODS:This study involved 65 eyes from 65 patients who underwent surgery for idiopathic MH. ILM was peeled with a radius of either 0.7...
journal_title：American journal of ophthalmology
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.ajo.2016.06.041
更新日期：2016-09-01 00:00:00
abstract：:Twelve patients (14 eyes) had intraocular pressure elevations induced by repository coritcosteroids. The duration and severity of the resulting pressure elevations were directly related to the decreasing solubility of the agent employed. Ten patitens had received intensive topical corticosteroids before injection, res...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(76)90669-3
更新日期：1976-07-01 00:00:00
abstract：PURPOSE:Low docosahexaenoic acid (DHA) in X-linked retinitis pigmentosa (XLRP) may influence retinal function. The goals of this study were to elevate blood DHA levels and determine the effect on the rate of disease progression. DESIGN:In a 4-year prospective randomized clinical trial, male patients with XLRP (mean ag...
journal_title：American journal of ophthalmology
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/j.ajo.2003.10.045
更新日期：2004-04-01 00:00:00
abstract：:Subretinal neovascular membranes cause late visual loss and are important determinants of final visual acuity in patients with Vogt-Koyanagi-Harada syndrome. The purpose of this study was to determine the prevalence and risk factors associated with the development of subretinal neovascular membranes in Vogt-Koyanagi-H...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)71280-2
更新日期：1993-08-15 00:00:00
abstract：PURPOSE:To compare optic disk size in eyes of subjects classified as normal with the eyes of subjects with open-angle glaucoma, ocular hypertension, or pseudoexfoliation syndrome in an older population-based sample. METHODS:The Blue Mountains Eye Study examined 3,654 subjects. Vertical disk diameter was measured from ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(99)00195-6
更新日期：1999-10-01 00:00:00
