Abstract:
Importance:There are limited published data on the phenotype of retinitis pigmentosa (RP) related to CNGB1 variants. These data are needed both for prognostic counseling of patients and for understanding potential treatment windows. Objective:To describe the detailed clinical and molecular genetic findings in a series of patients with RP with likely pathogenic variants in CNGB1. Design, Setting, and Participants:In this case series, 10 patients from 9 families underwent full ophthalmologic examination. Molecular investigations included whole-exome analysis in 6 patients. The study was conducted from April 17, 2013, to March 3, 2016, with final follow-up completed on March 2, 2016, and data were analyzed from October 27, 2014, to March 29, 2016. Main Outcomes and Measures:Results of ophthalmologic examination and molecular genetic analysis of CNGB1. Results:In this case series, 7 women and 3 men from 9 families with a mean (SD) age of 47.4 (13.2) years identified as having CNGB1 variants were included in this study; there was a mean (SD) follow-up length of 3.7 (2.8) years. The first clinical presentation was with nyctalopia in childhood with visual field loss documented later at a mean (SD) age of 33.2 (8.0) years. All patients had preserved best-corrected visual acuity into adulthood, with a mean of 0.1 logMAR (Snellen equivalent, 20/25) in each eye (logMAR range, 0.0 to 0.3 [Snellen 20/20 to 20/40] in the right eye and -0.1 to 0.3 [Snellen 20/16 to 20/40] in the left eye). Fundus examination revealed midperipheral retinal pigment epithelial atrophy and intraretinal pigment migration. Optical coherence tomography of the macula demonstrated complete preservation of the inner segment ellipsoid band in 1 patient, with variable lateral extent in the other patients corresponding to the diameter of a paracentral ring of increased fundus autofluorescence. Electrophysiologic testing in 6 patients confirmed a rod-cone dystrophy phenotype. Molecular investigations identified a previously reported missense variant (p.[N986I]) and 7 variants not previously reported in disease including 4 nonsense (p.[(Q88*], p.[Q222*], p.[Q318*], and p.[R729*]), 2 frameshift (p.[A1048fs*13], p.[L849Afs*3]), and a splice site variant (c.761 + 2T>A). Conclusions and Relevance:The data from this study suggest that visual acuity and foveal structure in patients with RP are preserved into adult life such that a lengthy window of opportunity should exist for intervention with novel therapies.
journal_name
JAMA Ophthalmoljournal_title
JAMA ophthalmologyauthors
Hull S,Attanasio M,Arno G,Carss K,Robson AG,Thompson DA,Plagnol V,Michaelides M,Holder GE,Henderson RH,Raymond FL,Moore AT,Webster ARdoi
10.1001/jamaophthalmol.2016.5213subject
Has Abstractpub_date
2017-02-01 00:00:00pages
137-144issue
2eissn
2168-6165issn
2168-6173pii
2594679journal_volume
135pub_type
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journal_title:JAMA ophthalmology
pub_type: 杂志文章,多中心研究
doi:10.1001/jamaophthalmol.2017.1082
更新日期:2017-06-01 00:00:00
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pub_type: 杂志文章
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更新日期:2020-10-01 00:00:00
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pub_type: 杂志文章,多中心研究,随机对照试验
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更新日期:2020-03-01 00:00:00
abstract::Within 20 years of its discovery 100 years ago, vitamin A was recognized as critical to normal eyes, growth, and survival. Clinical interest subsequently contracted to its importance in preventing xerophthalmia, until this ophthalmologist stumbled, quite accidently, on its role in fighting life-threatening infections....
journal_title:JAMA ophthalmology
pub_type: 历史文章,杂志文章
doi:10.1001/jamaophthalmol.2013.5309
更新日期:2014-01-01 00:00:00
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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
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journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2013.6671
更新日期:2014-03-01 00:00:00
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journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2016.1678
更新日期:2016-08-01 00:00:00
abstract:IMPORTANCE:Further research is crucial to better understand the reason for falls in individuals with visual impairment (VI) and to develop appropriate fall prevention strategies. OBJECTIVE:To compare balance measures in individuals with normal vision, VI, and uncorrected refractive error (URE). DESIGN AND SETTING:Cro...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2013.316
更新日期:2013-08-01 00:00:00
abstract:Importance:The number and size of guttae increase over time in Fuchs endothelial corneal dystrophy (FECD); however, the association between these physical parameters and disease pathogenesis is unclear. Objective:To determine the role of guttae in corneal endothelial cell function. Design, Settings, and Participants:...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
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更新日期:2018-08-01 00:00:00
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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.2016.1669
更新日期:2016-08-01 00:00:00
abstract:Importance:Identifying the course of glaucomatous visual field (VF) loss that progresses from normal to perimetric blindness is important for treatment and prognostication. Objective:To model the process of glaucomatous VF decay over the entire perimetric range from normal to perimetric blindness. Design, Setting, an...
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pub_type: 杂志文章
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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:Optical coherence tomographic angiography (OCT-A) is able to visualize retinal microvasculature without the need for injection of fluorescein contrast dye. Nevertheless, it is only able to capture a limited view of macula and does not show leakage. Objectives:To evaluate the retinal microvasculature using O...
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pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2016.5877
更新日期:2017-04-01 00:00:00
abstract:Importance:Although low-income populations have more eye problems, whether they face greater difficulty obtaining eye care appointments is unknown. Objective:To compare rates of obtaining eye care appointments and appointment wait times for those with Medicaid vs those with private insurance. Design, Setting, and Par...
journal_title:JAMA ophthalmology
pub_type: 杂志文章,多中心研究
doi:10.1001/jamaophthalmol.2018.0813
更新日期:2018-06-01 00:00:00
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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:Descemet stripping automated endothelial keratoplasty (DSAEK) for isolated endothelial dysfunction has become the preferred surgical option for many corneal surgeons. However, there are limited large-scale reports on DSAEK survival and clinical variables affecting the risk of rejection and failure after fail...
journal_title:JAMA ophthalmology
pub_type: 杂志文章,多中心研究
doi:10.1001/jamaophthalmol.2014.352
更新日期:2014-06-01 00:00:00
abstract:Importance:Despite the existing country-specific strategies tackling social inequalities in visual health in adults, little is known about trends in visual function in childhood and its association with social position. Objective:To investigate the distribution of childhood visual function in the United Kingdom and as...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2017.2812
更新日期:2017-09-01 00:00:00
abstract:IMPORTANCE:Anterior chamber seeding following intraophthalmic artery chemotherapy is rarely reported. OBJECTIVES:To describe clinicopathologic observations in eyes in which intraophthalmic artery chemotherapy for retinoblastoma failed and to report anterior chamber involvement. OBSERVATIONS:A retrospective case serie...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2015.2861
更新日期:2015-12-01 00:00:00
abstract::IMPORTANCE Advanced glycation end products have been implicated in the pathogenesis of age-related macular degeneration (AMD). OBJECTIVE To investigate the relationship between serum carboxymethyllysine (CML), a major circulating advanced glycation end product, and AMD in older adults. DESIGN, SETTING, AND PARTICIPANT...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2013.7664
更新日期:2014-04-01 00:00:00
abstract:Importance:Immune checkpoint inhibitors, including antiprogrammed cell death protein-1 (anti-PD-1) and antiprogrammed cell death ligand-1 (anti-PD-L1) monoclonal antibodies, have recently been introduced as a promising new immunotherapy for solid cancers. The adverse effects typically include inflammation of the skin, ...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2018.0920
更新日期:2018-05-01 00:00:00
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journal_title:JAMA ophthalmology
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更新日期:2016-07-01 00:00:00
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journal_title:JAMA ophthalmology
pub_type: 杂志文章,多中心研究,随机对照试验
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更新日期:2020-05-01 00:00:00
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journal_title:JAMA ophthalmology
pub_type: 杂志文章,多中心研究
doi:10.1001/jamaophthalmol.2015.0471
更新日期:2015-06-01 00:00:00
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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
abstract:Importance:The comparative clinical effectiveness of ranibizumab, aflibercept, and bevacizumab for the management of macular edema due to central retinal vein occlusion (CRVO) is unclear. Objective:To determine whether intravitreal aflibercept or bevacizumab compared with ranibizumab results in a noninferior mean chan...
journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2019.3305
更新日期:2019-08-29 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
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journal_title:JAMA ophthalmology
pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2014.1715
更新日期:2014-09-01 00:00:00
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pub_type: 杂志文章
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更新日期:2015-03-01 00:00:00
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pub_type: 杂志文章,多中心研究,随机对照试验
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更新日期:2015-09-01 00:00:00
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pub_type: 杂志文章
doi:10.1001/jamaophthalmol.2014.3527
更新日期:2015-01-01 00:00:00