Abstract:
IMPORTANCE:A large number of genes can cause inherited retinal degenerations when mutated. It is important to identify the cause of disease for a better disease prognosis and a possible gene-specific therapeutic intervention. OBJECTIVE:To identify the cause of disease in families with nonsyndromic retinitis pigmentosa. DESIGN, SETTING, AND PARTICIPANTS:Patients and family members were recruited for the study and underwent clinical evaluation and genetic analyses. MAIN OUTCOMES AND MEASURES:Identification of sequence variants in genes using next-generation sequencing. RESULTS:We performed exome sequencing for 4 families, which was followed by Sanger sequencing of the identified mutations in 120 ethnicity-matched patients. In total, we identified 4 BBS2 missense mutations that cause nonsyndromic retinitis pigmentosa. Three siblings of Moroccan Jewish ancestry were compound heterozygotes for p.A33D and p.P134R, and 6 patients belonging to 4 families of Ashkenazi Jewish ancestry were homozygous for either p.D104A or p.R632P, or compound heterozygous for these 2 mutations. The mutations cosegregated with retinitis pigmentosa in the studied families, and the affected amino acid residues are evolutionarily conserved. CONCLUSIONS AND RELEVANCE:Our study shows that BBS2 mutations can cause nonsyndromic retinitis pigmentosa and highlights yet another candidate for this genetically heterogeneous condition.
journal_name
JAMA Ophthalmoljournal_title
JAMA ophthalmologyauthors
Shevach E,Ali M,Mizrahi-Meissonnier L,McKibbin M,El-Asrag M,Watson CM,Inglehearn CF,Ben-Yosef T,Blumenfeld A,Jalas C,Banin E,Sharon Ddoi
10.1001/jamaophthalmol.2014.5251subject
Has Abstractpub_date
2015-03-01 00:00:00pages
312-8issue
3eissn
2168-6165issn
2168-6173pii
2084908journal_volume
133pub_type
杂志文章abstract:Importance:Congenital stationary night blindness (CSNB) implies a stable condition, with the major symptom being nyctalopia present at birth. Pediatric clinical presentation and the course of different genetic subtypes of CSNB have not, to our knowledge, been well described in the era of molecular genetic diagnosis. O...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2018.0185
更新日期:2018-04-01 00:00:00
abstract:Importance:Macular edema (ME) is the leading cause of decreased visual acuity (VA) associated with retinal vein occlusion (RVO). Identifying factors associated with better outcomes in RVO eyes treated with anti-vascular endothelial growth factor (VEGF) therapy may provide information useful in counseling patients. Obj...
journal_title:JAMA ophthalmology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1001/jamaophthalmol.2017.1141
更新日期:2017-06-01 00:00:00
abstract:Importance:This study used optical coherence tomographic angiography to assess for impaired blood flow in myopic eyes with or without open-angle glaucoma. Objective:To compare the peripapillary perfused capillary density (PCD) between eyes with and without glaucoma. Design, Setting, and Participants:In this cross-sec...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2018.0776
更新日期:2018-05-01 00:00:00
abstract:IMPORTANCE:Progressive geographic atrophy (GA) of the retinal pigment epithelium leads to loss of central vision. To identify GA in age-related macular degeneration and assess treatment, correlation of function observed on microperimetry with structure observed on optical coherence tomographic (OCT) images may be of va...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2016.1535
更新日期:2016-08-01 00:00:00
abstract:IMPORTANCE:Macular telangiectasia type 2 is a bilateral disease with characteristic alterations of the macular capillary network and neural atrophy. Vascular and neurodegenerative hypotheses have been proposed to explain these clinical findings, but many questions regarding the pathogenesis remain. OBSERVATIONS:We rep...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2015.1796
更新日期:2015-08-01 00:00:00
abstract:IMPORTANCE:Tuberculosis is an endemic infectious disease in developing countries. Patients receiving treatment for systemic tuberculosis may develop paradoxical growth of tuberculomas in the brain, which can lead to vision loss. OBSERVATIONS:We describe 3 patients who had paradoxical development of tuberculomas in the...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2013.4840
更新日期:2013-11-01 00:00:00
abstract:Importance:Most premature infants will not develop retinopathy of prematurity (ROP) of clinical relevance, yet screening evaluations often continue beyond hospital discharge, even for those infants without ROP. Objectives:To identify the characteristics of infants at low risk for ROP, for whom further postdischarge sc...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2018.5520
更新日期:2019-02-01 00:00:00
abstract:Importance:Contemporary data on use of eye care by US adults are critical, as the prevalence of age-related eye disease and vision impairment are projected to increase in the coming decades. Objectives:To provide nationally representative estimates on self-reported use of eye care by adults aged 50 to 80 years, and to...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2019.1927
更新日期:2019-06-20 00:00:00
abstract:OBJECTIVE:To determine whether treatment of choroidal melanoma influences survival by correlating age at death, cause of death, age at treatment, and survival predictors. DESIGN, SETTING, AND PARTICIPANTS:Prospective cohort study performed at the Liverpool Ocular Oncology Centre, a supraregional, tertiary referral ser...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2014.77
更新日期:2014-05-01 00:00:00
abstract:IMPORTANCE:Myopia is a significant public health problem, making it important to determine whether a bifocal spectacle treatment involving near prism slows myopia progression in children. OBJECTIVE:To determine whether bifocal and prismatic bifocal spectacles control myopia in children with high rates of myopia progre...
journal_title:JAMA ophthalmology
pub_type: 杂志文章,随机对照试验
doi:10.1001/jamaophthalmol.2013.7623
更新日期:2014-03-01 00:00:00
abstract:Importance:Coronavirus disease 2019 (COVID-19) has been recognized as a pandemic by the World Health Organization. Whether severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) can also infect tissues besides the respiratory system, such as the ocular tissues, remains unclear. Objective:To determine whether SAR...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2020.3962
更新日期:2020-10-08 00:00:00
abstract:Importance:Early detection of choroidal melanoma at a small tumor size is emphasized in the literature. However, there is little published information on the specific risks of plaque-irradiated small choroidal melanoma on visual acuity and metastasis. Objective:To analyze outcomes of plaque radiotherapy for small chor...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2018.3881
更新日期:2018-12-01 00:00:00
abstract:IMPORTANCE:The CX3CR1 gene is implicated as a candidate gene for age-related macular degeneration (AMD) through several lines of evidence. There is uncertainty, however, as to whether common genetic variants in CX3CR1 alter risk of AMD, since prior studies have been inconsistent and mostly limited to evaluation of 2 no...
journal_title:JAMA ophthalmology
pub_type: 杂志文章,meta分析,随机对照试验
doi:10.1001/jamaophthalmol.2013.5506
更新日期:2014-01-01 00:00:00
abstract:Importance:Glaucoma-related adverse events constitute serious complications of cataract removal in infancy, yet long-term data on incidence and visual outcome remain lacking. Objective:To identify and characterize incident cases of glaucoma and glaucoma-related adverse events (glaucoma + glaucoma suspect) among childr...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2020.5664
更新日期:2020-12-17 00:00:00
abstract:Importance:Mobility limitations arising from vision impairment (VI) can result in loss of independence and reduced quality of life. However, few data are available on the association between VI and mobility limitations at a population-based level, particularly in Asian populations. Objective:To assess the association ...
journal_title:JAMA ophthalmology
pub_type: 杂志文章,多中心研究
doi:10.1001/jamaophthalmol.2016.2394
更新日期:2016-10-01 00:00:00
abstract:Importance:Some eyes with neovascular age-related macular degeneration (AMD) have persistent exudation despite frequent intravitreal anti-vascular endothelial growth factor (VEGF) injections. Adjuvant therapies that further reduce edema may improve vision outcomes. Objective:To compare the short-term effect of topical...
journal_title:JAMA ophthalmology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1001/jamaophthalmol.2020.0724
更新日期:2020-05-01 00:00:00
abstract:Importance:Adding a laser-induced chorioretinal anastomosis (L-CRA) to current treatments for central retinal vein occlusion (CRVO) may improve outcomes and lessen therapy burdens. Objective:To determine the 2-year efficacy of intravitreal ranibizumab with an L-CRA vs ranibizumab alone for patients with macular edema ...
journal_title:JAMA ophthalmology
pub_type: 杂志文章,随机对照试验
doi:10.1001/jamaophthalmol.2018.4973
更新日期:2018-12-01 00:00:00
abstract:IMPORTANCE:To facilitate comparative clinical outcome research in low vision rehabilitation, we must use patient-centered measurements that reflect clinically meaningful changes in visual ability. OBJECTIVE:To quantify the effects of currently provided low vision rehabilitation (LVR) on patients who present for outpat...
journal_title:JAMA ophthalmology
pub_type: 杂志文章,多中心研究
doi:10.1001/jamaophthalmol.2015.0693
更新日期:2015-07-01 00:00:00
abstract:Importance:Medical and surgical interventions for glaucoma are effective only if they are affordable to patients. Little is known about how affordable glaucoma interventions are in developing and developed countries. Objective:To compare the prices of topical glaucoma medications, laser trabeculoplasty, and trabeculec...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2018.3672
更新日期:2018-11-01 00:00:00
abstract:Importance:Because studies have suggested that atropine might slow the progression of myopia in children, randomized clinical trials are warranted to understand this potential causal relationship. Objective:To evaluate the efficacy and safety of atropine, 0.01%, eyedrops on slowing myopia progression and axial elongat...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2020.3820
更新日期:2020-10-01 00:00:00
abstract:IMPORTANCE:Superior rectus transposition (SRT) with or without medial rectus recession (MRc) has been introduced as an alternative to MRc alone for treatment of esotropic Duane syndrome; however, the effectiveness of these procedures has not been compared previously. OBJECTIVE:To compare the safety and efficacy of MRc...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2014.358
更新日期:2014-06-01 00:00:00
abstract:OBJECTIVE:To evaluate the efficacy of selective laser trabeculoplasty (SLT) for the treatment of primary open-angle glaucoma in an African-derived population in the developing world. METHODS:Sixty-one subjects from St. Lucia with medically treated primary open-angle glaucoma underwent a 30-day washout, followed by bil...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2013.1706
更新日期:2013-03-01 00:00:00
abstract:Importance:The Diabetic Retinopathy Clinical Research Network Protocol S randomized clinical trial results suggest that ranibizumab is a reasonable treatment alternative to panretinal photocoagulation (PRP) when managing proliferative diabetic retinopathy (PDR), with or without concomitant baseline diabetic macular ede...
journal_title:JAMA ophthalmology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1001/jamaophthalmol.2017.0837
更新日期:2017-06-01 00:00:00
abstract:IMPORTANCE:Eye and vision disease burden should help guide ophthalmologic research prioritization. The Global Burden of Disease (GBD) Study 2010 compiled data from 1990 to 2010 on 291 diseases and injuries, 1160 disease and injury sequelae, and 67 risk factors in 187 countries. The Cochrane Database of Systematic Revie...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2014.3527
更新日期:2015-01-01 00:00:00
abstract:IMPORTANCE:The potential effect of treatments for diabetic macular edema (DME) on driving should be of value to patients and clinicians, such as ophthalmologists and other physicians, who treat patients with diabetes mellitus. OBJECTIVE:To determine the effect of ranibizumab on driving and patient-reported vision func...
journal_title:JAMA ophthalmology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1001/jamaophthalmol.2015.4636
更新日期:2016-02-01 00:00:00
abstract:Importance:Both primary and secondary forms of childhood glaucoma have many distinct causative mechanisms, and in many cases a cause is not immediately clear. The broad phenotypic spectrum of secondary glaucoma, particularly in individuals with variants in FOXC1 or PITX2 genes associated with Axenfeld-Rieger syndrome, ...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2018.5646
更新日期:2019-04-01 00:00:00
abstract:OBJECTIVE:To assess the benefit of increased follow-up and treatment with ranibizumab between months 24 and 36 in the Ranibizumab for Edema of the Macula in Diabetes (READ-2) Study. DESIGN:Prospective, interventional, multicenter follow-up of a randomized clinical trial. METHODS:Patients who agreed to participate bet...
journal_title:JAMA ophthalmology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1001/2013.jamaophthalmol.91
更新日期:2013-02-01 00:00:00
abstract:IMPORTANCE:Binocular summation (BiS) is defined as the superiority of visual function for binocular over monocular viewing. Binocular summation decreases with age and large interocular differences in visual acuity. To our knowledge, BiS has not heretofore been well studied as a functional measure of binocularity in str...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2013.4484
更新日期:2013-11-01 00:00:00
abstract:Importance:Visual impairment and visual disorders often co-occur with other chronic conditions. Understanding patterns of multimorbidity is important for reducing health care use and improving health outcomes. Objective:To identify chronic condition patterns and their association with visual impairment and health care...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2020.0052
更新日期:2020-04-01 00:00:00
abstract:Importance:Anti-vascular endothelial growth factor (anti-VEGF) is a breakthrough treatment for wet age-related macular degeneration (wAMD), the most common cause of blindness in western countries. Anti-VEGF treatment prevents vision loss and has been shown to produce vision gains lasting as long as 5 years. Although th...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2019.4557
更新日期:2019-11-14 00:00:00