Abstract:
PURPOSE:To review the contributions to ophthalmic genetics through the American Journal of Ophthalmology (AJO). DESIGN:Perspective. METHODS:A literature search to retrieve original articles, letters, editorials, and published lectures from 1966 to 2017, providing a 50-year review. Titles were excluded that gave no reference to genetics or that presented findings related to a nongenetic ocular condition. RESULTS:From a search of the Scopus database, 719 articles were ascertained. Of these, 115 were excluded because the title did not reference a genetic condition or have a focus on genetic factors; 4 were excluded because they described animal phenotypes (1966-1967); and 4 were excluded owing to having received no citations up to and including 2015. The highest number of citations was 283 times for a single article on familial aggregation in age-related macular degeneration. The Web of Science database yielded 771 articles; of these, 118 were excluded owing to not reporting human genetic studies; 55 received no citations. The highest number of citations was 307 for a single article, a 1991 paper on Leber hereditary optic neuropathy. CONCLUSIONS:The Journal's contributions to our understanding of the heritability of human ocular traits have been broad and deep, with international reach. The development of new techniques fostered new concepts and new approaches to rapidly expand the number of known single gene disorders with a defined molecular genetic cause. Reports on Mendelian and complex traits in the AJO abound, along with 6 Edward Jackson Memorial Lectures on retinal dystrophies, Leber congenital amaurosis, age-related macular degeneration, and glaucoma.
journal_name
Am J Ophthalmoljournal_title
American journal of ophthalmologyauthors
MacDonald IM,Sieving PCdoi
10.1016/j.ajo.2018.03.004subject
Has Abstractpub_date
2018-06-01 00:00:00pages
xvi-xxieissn
0002-9394issn
1879-1891pii
S0002-9394(18)30102-8journal_volume
190pub_type
杂志文章,评审abstract:PURPOSE:To examine clinical outcomes in deep anterior lamellar keratoplasty (DALK) for keratoconus using contemporary techniques in a multisurgeon public healthcare setting. DESIGN:Consecutive, retrospective case series. METHODS:Setting: Moorfields Eye Hospital, London, United Kingdom. STUDY POPULATION:Consecutive c...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ajo.2019.01.022
更新日期:2019-05-01 00:00:00
abstract:PURPOSE:To evaluate the surgical efficacy of pars plana vitrectomy on eyes with diabetic macular edema in the presence or absence of a complete posterior vitreous detachment and with or without an epimacular membrane. METHODS:Pars plana vitrectomy was performed on 30 eyes of 29 cases with diabetic macular edema. Visua...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0002-9394(01)01050-9
更新日期:2001-09-01 00:00:00
abstract:PURPOSE:To report dry eye patients' functional visual acuity, which was measured after sustained eye opening for 10-20 seconds, as a simulation of visual function of daily acts of gazing, which is defined as looking at an object with involuntary blink suppression. METHODS:Interventional clinical nonrandomized comparat...
journal_title:American journal of ophthalmology
pub_type: 临床试验,杂志文章
doi:10.1016/s0002-9394(01)01365-4
更新日期:2002-02-01 00:00:00
abstract:PURPOSE:To evaluate postkeratoplasty astigmatism between two suture techniques 2 to 4 years postoperatively in a group of patients previously studied 9 months postoperatively. METHODS:Thirty-two patients who underwent penetrating keratoplasty were randomly assigned to one of two groups. Group 1 (16 patients) had a 24-...
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/s0002-9394(14)70489-1
更新日期:1996-11-01 00:00:00
abstract::Two patients had paresis of the trochlear nerve contralateral to the site of lesions in the brainstem. Both patients had ipsilateral blepharoptosis and miosis suggesting oculosympathetic paresis from involvement of the descending sympathetic tract, adjacent to the fourth cranial nerve nucleus and its fascicles, in the...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/0002-9394(89)90818-0
更新日期:1989-01-15 00:00:00
abstract:PURPOSE:To report the clinical and histopathologic features of orbital hemangiopericytoma. METHOD:We review the clinical and histopathologic features in seven patients. RESULTS:Ultrasonography, computed tomography, and magnetic resonance imaging defined the location and extent of the tumor in each patient but did not...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0002-9394(14)70904-3
更新日期:1997-11-01 00:00:00
abstract:PURPOSE:To study the effect of commonly used preservative free artificial tear, carboxymethylcellulose (CMC) 0.5% (Refresh Plus, Allergan, Irvine, California) on visual acuity in symptomatic dry eye (SDE) and asymptomatic dry eye (ADE) patients. DESIGN:Nonrandomized prospective clinical trial. METHODS:Prospective stu...
journal_title:American journal of ophthalmology
pub_type: 临床试验,杂志文章
doi:10.1016/j.ajo.2005.05.001
更新日期:2005-11-01 00:00:00
abstract:PURPOSE:To report a case of progressive axial myopia associated with traumatic glaucoma in a juvenile patient with no systemic disease. DESIGN:Interventional case report. METHODS:In a 15-year-old male, serial ocular examinations, including manifest refraction, tonometry, and axial eye length measurement, were perform...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0002-9394(02)01330-2
更新日期:2002-05-01 00:00:00
abstract:PURPOSE:To report rapidly progressive rhino-orbitocerebral mucormycosis in a 47-year-old woman with both diabetes mellitus and the acquired immunodeficiency syndrome (AIDS). METHOD:Case report including postmortem examination of the eyes, orbit, and brain of a patient with rhino-orbitocerebral mucormycosis, diabetes m...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0002-9394(14)70392-7
更新日期:1996-12-01 00:00:00
abstract:PURPOSE:To evaluate a novel Zernike algorithm to differentiate 3-dimensional (3-D) corneal thickness distribution of corneas with keratoconus (KC) from normal corneas. DESIGN:A retrospective development and evaluation of a diagnostic approach. METHODS:Corneal tomography with Scheimpflug imaging was performed in norma...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ajo.2015.06.001
更新日期:2015-09-01 00:00:00
abstract::Clinic patients and students were given several regular drops of commercial 10% phenylephrine HCl, and 1.0% cyclopentolate HCl or 1.0% tropicamide HCl. The drops were given three times at five-minute intervals. Mydriasis and cycloplegia were determined and compared with the results obtained by using one of the followi...
journal_title:American journal of ophthalmology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/0002-9394(78)90129-0
更新日期:1978-12-01 00:00:00
abstract:PURPOSE:To characterize spontaneous dislocation of the fluocinolone acetonide sustained release implant (Retisert; Bausch & Lomb) drug pellet from its strut. DESIGN:Retrospective, observational case series. METHODS:The medical records of 224 patients in whom 407 fluocinolone acetonide implants were placed by either o...
journal_title:American journal of ophthalmology
pub_type: 杂志文章,多中心研究
doi:10.1016/j.ajo.2015.01.031
更新日期:2015-05-01 00:00:00
abstract:PURPOSE:To assess the risk of diabetic retinopathy (DR) in children with type 1 diabetes mellitus (T1DM) diagnosed at a very early age. DESIGN:Observational case series. METHODS:The records of 51 patients were identified through the diabetes database of the Division of Pediatric Endocrinology and Metabolism at Washin...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ajo.2005.05.023
更新日期:2005-11-01 00:00:00
abstract:PURPOSE:To determine whether the hepatocyte growth factor is increased in the vitreous of patients with proliferative vitreoretinopathy. METHODS:We assayed hepatocyte growth factor levels by enzyme-linked immunosorbent assay (ELISA) in vitreous samples from 65 consecutive eyes (65 patients) with proliferative vitreore...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0002-9394(00)00360-3
更新日期:2000-05-01 00:00:00
abstract:PURPOSE:To report two patients with severe fungal corneal ulcers who were treated successfully with topical amphotericin B ointment. METHODS:Two eyes of two patients developed corneal ulcers and hypopyon after corneal foreign body removal. Aspergillus fumigatus and Fusarium solani were isolated in Patients 1 and 2, re...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0002-9394(14)71701-5
更新日期:1997-12-01 00:00:00
abstract::A 2-week-old premature child with congenital glaucoma secondary to anterior cleavage syndrome was treated with timolol maleate and cyclocryotherapy. The patient had apneic spells of up to 30 seconds that stopped soon after timolol maleate therapy was discontinued. No apnea was seen before timolol maleate administratio...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/0002-9394(79)90766-9
更新日期:1979-07-01 00:00:00
abstract::A 21-year-old white woman had an apparently benign fibrous histiocytoma at the corneoscleral limbus. By histopathologic and ultrastructural studies, the tumor consisted of lipid-containing histiocytes and fibrocytic cells arranged in a storiform configuration with a collagenous interstitium. After an excision, the les...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/0002-9394(75)90391-8
更新日期:1975-10-01 00:00:00
abstract::We examined two eyes from two noninsulin-dependent diabetic patients that developed vitreous hemorrhage secondary to retinal neovascularization after branch retinal arterial obstruction. Although there was no ophthalmoscopic evidence of diabetic retinopathy, diabetes mellitus may have predisposed the retinas to a neov...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/0002-9394(87)90420-x
更新日期:1987-09-15 00:00:00
abstract:PURPOSE:To determine the prevalence of artifacts on segmented spectral-domain optical coherence tomography (SDOCT) images and assess their impact on the interpretation of glaucomatous progression in the retinal nerve fiber layer (RNFL) profile and macular thickness map. DESIGN:Retrospective reliability analysis. METH...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ajo.2020.08.018
更新日期:2021-01-01 00:00:00
abstract:PURPOSE:To investigate the impact on patient management of posterior segment echographic evaluation at an academic institution. DESIGN:Retrospective, noncomparative, consecutive case series. METHODS:Records were reviewed of all patients evaluated for the first time with ocular echography for posterior segment evaluat...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0002-9394(03)00910-3
更新日期:2004-01-01 00:00:00
abstract::Two siblings had atrophic maculopathy associated with hereditary ataxia clinically defined as an olivopontocerebellar degeneration. The macular changes were suggestive of an early bull's-eye maculopathy in one case and of a late atrophic stage of bull's-eye maculopathy in the other. This suggests that concentric annul...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0002-9394(14)75125-6
更新日期:1980-11-01 00:00:00
abstract:PURPOSE:To evaluate the correlation between tear film lipid layer thickness and other objective measurements such as tear film break-up time (TBUT), upper and lower meibomian gland losses, and Schirmer 1 test in patients with obstructive meibomian gland dysfunction (MGD) and normal controls. DESIGN:Cross-sectional stu...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ajo.2013.01.008
更新日期:2013-06-01 00:00:00
abstract::We compared the intraocular pressure-decreasing effect of timolol maleate alone, acetazolamide alone, and combined timolol and acetazolamide therapy in nine patients with bilateral chronic open-angle glaucoma. Timolol decreased intraocular pressure at least as effectively as acetazolamide. The two medications together...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0002-9394(14)75631-4
更新日期:1981-12-01 00:00:00
abstract::A 5-month-old infant girl died of familial lymphohistiocytosis. The central nervous system showed widespread perivascular infiltration of the cerebral pia and arachnoid, the cerebral white matter and deep gray matter, the cerebellum, and brain stem by lymphocytes, benign appearing histiocytes, and macrophages with ery...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/0002-9394(76)90013-1
更新日期:1976-11-01 00:00:00
abstract::We conducted a prospective randomized clinical trial on the use of 2% hydroxypropyl methylcellulose and 1% sodium hyaluronate in the anterior chamber during anterior capsulotomy and nuclear expression in extracapsular cataract extraction with posterior chamber lens implantation in 70 patients. Both viscoelastic substa...
journal_title:American journal of ophthalmology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/0002-9394(86)90399-5
更新日期:1986-12-15 00:00:00
abstract:PURPOSE:To describe the validation and implementation of an automated system for the detection and quantification of guttae in Fuchs endothelial corneal dystrophy (FECD). DESIGN:Observational reliability study. METHODS:Patients with FECD underwent retroillumination corneal photography, followed by determination of th...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ajo.2020.07.029
更新日期:2021-01-01 00:00:00
abstract::Pregnant rabbits in their first and second "trimesters" of gestation were used in a controlled study to evaluate the teratogenicity of fluorescein sodium. Injections of the drug were given in doses comparable to those planned for human administration. No abortions or defects apparent at birth or as delayed manifestati...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/0002-9394(77)90508-6
更新日期:1977-12-01 00:00:00
abstract:PURPOSE:To identify a rapid and reliable method to detect the Glutamine 368 STOP (Q368STOP) disease-predisposing allele of the myocilin gene associated with adult onset, primary, open-angle glaucoma. METHODS:Individuals with the Q368STOP mutation of the myocilin gene were identified from a cohort of primary open-angle...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0002-9394(00)00812-6
更新日期:2001-04-01 00:00:00
abstract:PURPOSE:To evaluate the decrease in intraocular pressure associated with cidofovir (1-[(S)-3-hydroxy-2-(phosphonomethoxy)propyl]cytosine dihydrate; HPMPC) intravitreal injections. METHODS:We followed up 97 eyes of 63 patients with acquired immunodeficiency syndrome (AIDS) who had cytomegalovirus retinitis and had been...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0002-9394(14)70781-0
更新日期:1997-08-01 00:00:00
abstract::Benign lateral rectus palsy developed in two adults, a 62-year-old man and a 56-year-old woman. Both were hospitalized because of headache and diplopia. Extensive laboratory and neurologic testing showed no abnormalities except leukopenia (the white blood cell count was 2,600 cells/mm3 in one patient and 3,100 cells/m...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/0002-9394(82)90254-9
更新日期:1982-10-01 00:00:00