Abstract：
OBJECTIVE:To elucidate molecular risk factors for posterior segment uveitis using a functional genomics approach. DESIGN:Genetic association cohort study. METHODS:Setting: Single-center study at an academic referral center. STUDY POPULATION:164 patients with clinically diagnosed uveitis of the posterior segment. MAIN OUTCOME MEASURES:Exome sequencing was used to detect variants identified in 164 patients with posterior segment uveitis. A phenotype-driven analysis, protein structural modeling, and in silico calculations were then used to rank and predict the functional consequences of key variants. RESULTS:A total of 203 single nucleotide variants, in 23 genes across 164 patients, were included in this study. Both known and novel variants were identified in genes previously implicated in specific types of syndromic uveitis-such as NOD2 (Blau syndrome) and CAPN5 NIV (neovascular inflammatory vitreoretinopathy)-as well as variants in genes not previously linked to posterior segment uveitis. Based on a ranked list and protein-protein-interaction network, missense variants in NOD-like receptor family genes (NOD2, NLRC4, NLRP3, and NLRP1), CAPN5, and TYK2 were characterized via structural modeling and in silico calculations to predict how specific variants might alter protein structure and function. The majority of analyzed variants were notably different from wild type. CONCLUSIONS:This study implicates new pathways and immune signaling proteins that may be associated with posterior segment uveitis susceptibility. A larger cohort and functional studies will help validate the pathogenicity of the mutations identified. In specific cases, whole-exome sequencing can help diagnose nonsyndromic uveitis in patients harboring known variants for syndromic inflammatory diseases.
journal_name
Am J Ophthalmoljournal_title
American journal of ophthalmologyauthors
Li AS,Velez G,Darbro B,Toral MA,Yang J,Tsang SH,Ferguson PJ,Folk JC,Bassuk AG,Mahajan VBdoi
10.1016/j.ajo.2020.07.021subject
Has Abstractpub_date
2021-01-01 00:00:00pages
246-259eissn
0002-9394issn
1879-1891pii
S0002-9394(20)30378-0journal_volume
221pub_type
杂志文章abstract：:We examined two patients who had sudden decrease in vision after intranasal cocaine or methamphetamine abuse. A 38-year-old woman with a history of systemic arterial hypertension developed a central retinal artery occlusion four hours after intranasal use of cocaine. A 26-year-old woman had blurred vision and intraret...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)73979-0
更新日期：1992-08-15 00:00:00
abstract：PURPOSE:To assess the safety of rAAV.sFlt-1 subretinal injection in neovascular age-related macular degeneration (wet AMD) over 36 months. DESIGN:Phase 1 dose escalation trial. METHODS:Eight subjects with advanced, treatment-experienced wet AMD were randomly assigned (3:1) to treatment and non-gene therapy control gr...
journal_title：American journal of ophthalmology
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.ajo.2017.02.018
更新日期：2017-05-01 00:00:00
abstract：PURPOSE:To report reduction in the area of anterior capsule opening at various postoperative intervals after continuous capsulorrhexis and to compare any differences in the area reduction between polymethylmethacrylate, silicone, and soft acrylic intraocular lenses. METHODS:Prospectively, 240 eyes of 240 patients unde...
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)70169-2
更新日期：1997-04-01 00:00:00
abstract：:A 26-year-old woman experienced bilateral hearing loss, progressive nasal obstruction, and rhinorrhea. Examination disclosed a retropharyngeal mass. A needle biopsy specimen of the mass showed that it was a chordoma. The patient underwent surgery to remove the mass and received a postoperative course of radioactive co...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)75899-4
更新日期：1981-07-01 00:00:00
abstract：:Twenty-six eyes of 25 patients with chronic open-angle glaucoma and surgical aphakia with inadequate control of intraocular pressure (IOP) despite maximal medical treatment were treated with cyclocryotherapy, according to a prospective protocol and specific technique. (Neovascular and synechial glaucoma were excluded ...
journal_title：American journal of ophthalmology
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doi：10.1016/s0002-9394(14)77093-x
更新日期：1978-05-01 00:00:00
abstract：:We performed 115 scleral-buckling procedures for primary rhegmatogenous retinal detachments in which the argon endolaser drained subretinal fluid. The laser was set at 0.80 to 1.25 W and 0.5 second; the endolaser probe was held adjacent to, but not touching, the choroid. The procedure was successful in 112 of 115 (97....
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)73643-8
更新日期：1993-06-15 00:00:00
abstract：:Ten patients with endogenous uveitis were in clinical remission attributable to treatment with cyclosporine and prednisone. After the cyclosporine dose was reduced by two thirds, these patients were randomly assigned to treatment with or without ketoconazole, a potent inhibitor of cytochrome P-450, in a double-masked ...
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)74795-6
更新日期：1992-06-15 00:00:00
abstract：PURPOSE:To investigate the effect of yellow-tinted intraocular lenses (IOLs) on short-wavelength automated perimetry (SWAP). DESIGN:Cross-sectional observation study. METHODS:Twenty-two patients who had implantation of yellow-tinted IOLs (AcrySof SN60AT or SN60WF; Alcon Laboratories) in 1 eye and nontinted IOLs (Acry...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2010.02.023
更新日期：2010-08-01 00:00:00
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journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)73975-3
更新日期：1992-08-15 00:00:00
abstract：PURPOSE:To determine novel diagnostic parameters for keratoconus, and to assess the correlation between anterior and posterior corneal surfaces based on vectorial astigmatism analyses. DESIGN:Retrospective case-control study. METHODS:Six hundred and ninety-eight eyes of 698 patients were enrolled in the study. Health...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2016.04.008
更新日期：2016-07-01 00:00:00
abstract：PURPOSE:To report a case of neonatal orbital ganglioglioma originating from ectopic neural tissue. METHOD:Case report. RESULTS:An African-American male presented at birth with proptosis and expansion of the left orbit. A discrete soft-tissue mass was located inferolateral to the globe, which proved to be a gangliogli...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(99)00288-3
更新日期：2000-01-01 00:00:00
abstract：PURPOSE:To investigate the relationship of circulating levels of soluble form of LR11 (sLR11; also called SorLA or SORL1), with the progression of proliferative diabetic retinopathy (PDR) in patients with type 2 diabetes mellitus. DESIGN:Cross-sectional study. METHODS:Fifty-four patients with type 2 diabetes mellitus...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2012.01.035
更新日期：2012-07-01 00:00:00
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journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)77878-x
更新日期：1990-11-15 00:00:00
abstract：PURPOSE:To assess the conjunctival bacterial profiles in dry eye and their fluoroquinolone susceptibility patterns. DESIGN:Prospective, observational study. METHODS:Sixty-seven female patients with dry eye (29 with Sjögren syndrome and 38 without Sjögren syndrome) who received artificial tears were enrolled at Osaka ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2008.06.003
更新日期：2008-11-01 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：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
abstract：PURPOSE:To describe the usage patterns of pharmacological treatments for neovascular age-related macular degeneration (AMD) in Medicare fee-for-service beneficiaries. DESIGN:Retrospective review of all Medicare fee-for-service Part B claims for neovascular AMD during 2008. METHODS:Medicare beneficiaries having underg...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2010.11.017
更新日期：2011-05-01 00:00:00
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journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(80)90004-5
更新日期：1980-03-01 00:00:00
abstract：:A 253.7-nm ultraviolet light with an intensity of 1,100 microW/cm2 was tested for its germicidal activity against contact lenses and storage solutions contaminated with various corneal pathogens. The exposure time necessary to reduce a concentration of organisms from 10(6)/ml to less than 10/ml was 30 seconds for Stap...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
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journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2016.12.001
更新日期：2017-04-01 00:00:00
abstract：:Senior-Loken syndrome is a rare hereditary disease that combines a disorder resembling familial juvenile nephronophthisis with retinitis pigmentosa. Retinitis pigmentosa is even less frequently associated with exudative retinopathy. The patient, a 15-year-old boy, had hereditary renal-retinal dystrophy combined with a...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)73374-4
更新日期：1985-12-15 00:00:00
abstract：PURPOSE:To measure lead and cadmium in retinal tissues of human donor eyes with and without age-related macular degeneration (AMD). DESIGN:Laboratory investigation. METHODS:Lead and cadmium concentrations in retinal tissues (neural retina and retinal pigment epithelium [RPE]-choroid complex) in 25 subjects with AMD (...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2009.07.001
更新日期：2009-12-01 00:00:00
abstract：PURPOSE:To evaluate the outcome of intravitreal injection of aflibercept in cases with exudative age-related macular degeneration, (AMD) resistant to injections of bevacizumab or ranibizumab. DESIGN:Retrospective observational case series. METHODS:A retrospective chart review at a single institution was conducted to ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2013.02.017
更新日期：2013-07-01 00:00:00
abstract：PURPOSE:To report a case of chronic unilateral ptosis in a 63-year-old, otherwise healthy woman with visual restriction. METHODS:We performed a biopsy on an enlarged tarsal plate that we believed had caused ptosis. A levator aponeurotic advancement was performed subsequently. RESULTS:Histologic and ultrastructural ex...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)71145-6
更新日期：1997-06-01 00:00:00
abstract：:Two homosexual men, 35 and 42 years old, had bilateral acute angle-closure glaucoma in association with the acquired immune deficiency syndrome. In one patient, the angle-closure attack was the initial manifestation of AIDS. Choroidal effusion with secondary anterior rotation of the ciliary body at the scleral spur ap...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(86)90639-2
更新日期：1986-04-15 00:00:00
abstract：PURPOSE:To measure the changes in optic disk morphology after unilateral disk hemorrhage and to compare the changes between eyes. DESIGN:Observational case series. METHODS:Ten glaucoma patients who had a unilateral disk hemorrhage were enrolled. The baseline measurements obtained by Heidelberg Retina Tomograph (HRT) ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(02)01791-9
更新日期：2002-12-01 00:00:00
abstract：PURPOSE:To describe optical coherence tomographic (OCT) angiography findings in chronic central serous chorioretinopathy (CSC), and to characterize their OCT B-scans by means of the split-spectrum amplitude-decorrelation angiography algorithm. DESIGN:Evaluation of an imaging technique in a cohort of patients. METHODS...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2015.06.016
更新日期：2015-09-01 00:00:00
abstract：PURPOSE:To report the echographic appearance of a scleral fold in hypotony. METHOD:We performed ultrasonography on a patient who, after trabeculectomy with mitomycin C, had an intraocular pressure of 1 mm Hg, an opaque cataract, and suspected hypotonous maculopathy in the left eye. RESULTS:An area of dome-shaped eyew...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)70801-3
更新日期：1997-08-01 00:00:00
abstract：:To study further the transient increase in trabecular cell division within the first two days after laser trabeculoplasty in human corneoscleral explant organ cultures, we used a pulse-chase protocol in which immediately after laser treatment 3H-thymidine was added to the culture medium for 48 hours (the pulse period)...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(89)90805-2
更新日期：1989-01-15 00:00:00
abstract：:We treated two patients with Crohn's disease and one patient with ulcerative colitis who developed headache, papilledema, and intracranial hypertension (pseudotumor cerebri) during corticosteroid withdrawal. One had four separate episodes with corticosteroid withdrawal, which suggested a causal relationship. This asso...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)73145-9
更新日期：1994-03-15 00:00:00
