Abstract:
PURPOSE:To describe the genetic and phenotypic characteristics of a cohort of patients with PROM1 variants. DESIGN:Case-case study. METHODS:We screened a cohort of 2216 families with inherited retinal dystrophies using classical molecular techniques and next-generation sequencing approaches. The clinical histories of 25 patients were reviewed to determine age of onset of symptoms and the results of ophthalmoscopy, best-corrected visual acuity, full-field electroretinography, and visual field studies. Fundus autofluorescence and spectral-domain optical coherence tomography were further assessed in 7 patients. RESULTS:PROM1 variants were identified in 32 families. Disease-causing variants were found in 18 autosomal recessive and 4 autosomal dominant families. Monoallelic pathogenic variants or variants of unknown significance were identified in the remaining 10 families. Comprehensive phenotyping of 25 patients from 22 families carrying likely disease-causing variants revealed clinical heterogeneity associated with the PROM1 gene. Most of these patients presented cone-rod dystrophy and some exhibited macular dystrophy or retinitis pigmentosa, while all presented with macular damage. Phenotypic association of a dominant splicing variant with late-onset mild maculopathy was established. This variant is one of the 3 likely founder variants identified in our Spanish cohort. CONCLUSIONS:We report the largest cohort of patients with PROM1 variants, describing in detail the phenotype in 25 of them. Interestingly, within the variability of phenotypes related to this gene, macular involvement is a common feature in all patients.
journal_name
Am J Ophthalmoljournal_title
American journal of ophthalmologyauthors
Del Pozo-Valero M,Martin-Merida I,Jimenez-Rolando B,Arteche A,Avila-Fernandez A,Blanco-Kelly F,Riveiro-Alvarez R,Van Cauwenbergh C,De Baere E,Rivolta C,Garcia-Sandoval B,Corton M,Ayuso Cdoi
10.1016/j.ajo.2019.05.014subject
Has Abstractpub_date
2019-11-01 00:00:00pages
204-214eissn
0002-9394issn
1879-1891pii
S0002-9394(19)30244-2journal_volume
207pub_type
杂志文章abstract:PURPOSE:To measure peripapillary retinal nerve fiber layer volume in normal subjects and patients with ocular hypertension, primary open-angle glaucoma, and low-tension glaucoma. METHODS:Sixty-five subjects were classified into four groups of normal subjects and subjects with ocular hypertension, primary open-angle gl...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0002-9394(99)00464-x
更新日期:2000-05-01 00:00:00
abstract:PURPOSE:To report the occurrence of transient formed visual hallucinations following macular translocation. METHODS:Two case reports. RESULTS:Two white women aged 84 and 83 years with bilateral age-related macular degeneration and unilateral subfoveal choroidal neovascularization underwent macular translocation with ...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0002-9394(00)00934-x
更新日期:2001-05-01 00:00:00
abstract::Exposure to organic isocyanates in the atmosphere of a polyurethane-foam-producing company resulted in microcystic corneal epithelial edema and conjunctival injection localized primarily in the palpebral fissure. The degree of microcystic edema and decreased visual acuity appeared to be related to location, length of ...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0002-9394(14)75137-2
更新日期:1980-11-01 00:00:00
abstract:PURPOSE:To determine the association between cystoid macular edema and vascular endothelial growth factor concentration in the aqueous humor and plasma of uveitis patients. METHODS:Cross-sectional study. Vascular endothelial growth factor concentrations were measured by enzyme-linked immunosorbent assay in the aqueous...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0002-9394(01)01103-5
更新日期:2001-11-01 00:00:00
abstract:PURPOSE:To assess indocyanine green angiography (ICGA) as a method for monitoring autograft perfusion after pterygium excision with limbal-conjunctival autograft transplantation (LCAT) and to compare ICGA with anterior segment fluorescein angiography (ASFA). DESIGN:Nonrandomized prospective interventional case series....
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0002-9394(02)01834-2
更新日期:2003-01-01 00:00:00
abstract:PURPOSE/METHODS:A 74-year-old woman had multiple tumors including a retinal mass. Her medical history included cutaneous sebaceous adenomas, adenocarcinoma of the breast, and colonic adenocarcinoma. Her involved eye became painful and was enucleated. RESULTS/CONCLUSIONS:Examination of the enucleated eye disclosed meta...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0002-9394(14)72616-9
更新日期:1995-08-01 00:00:00
abstract:PURPOSE:To describe the presentation and subsequent management of a case of severe gonococcal keratitis in a young man. DESIGN:Case report. METHODS:A young man presented with severe gonococcal keratitis. Topical and systemic antibiotics were given with no improvement, and progressive corneal melting was noted. Deep l...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ajo.2004.04.014
更新日期:2004-09-01 00:00:00
abstract:PURPOSE:To determine the safety and efficacy of verteporfin photodynamic therapy (PDT) for the treatment of persistent choroidal neovascularization (CNV) previously treated with external beam radiotherapy (EBRT). DESIGN:Retrospective case series. METHODS:Verteporfin PDT was performed on 14 eyes of 13 patients with sy...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ajo.2004.09.019
更新日期:2005-03-01 00:00:00
abstract:PURPOSE:To evaluate the relationship between β-zone parapapillary atrophy (βPPA) and corneal hysteresis (CH) in patients with glaucoma. DESIGN:Prospective, cross-sectional study. METHODS:Glaucoma patients aged 18 to 90 years with disc photographs within 12 months of the study visit were consecutively enrolled. Exclus...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ajo.2011.06.025
更新日期:2012-02-01 00:00:00
abstract::Visual field testing of 166 phakic eyes with optic nerve damage from open-angle glaucoma before and after one year of treatment showed that the visual fields of myopic eyes improved more often than those of nonmyopic eyes (12% vs 6%) and worsened less often (6% vs 18%). These results suggested that myopia, which adver...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0002-9394(14)77378-7
更新日期:1982-05-01 00:00:00
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journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ajo.2003.12.047
更新日期:2004-06-01 00:00:00
abstract:PURPOSE:To characterize crystalline lens dimensions derived from in-vivo spectral-domain optical coherence tomography (SD-OCT) and identify associations between these parameters, ocular biometry and age. METHODS:In this retrospective study, lens thickness (LT), lens diameter (LD) and lens volume (LV) were measured int...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ajo.2020.12.021
更新日期:2020-12-29 00:00:00
abstract:PURPOSE:To assess and compare the frequency of reflex sneezing occurring during periocular anesthetic injections with and without intravenous sedation. DESIGN:Retrospective, comparative case series. METHODS:Seven hundred and twenty-two patients undergoing oculoplastic surgical procedures were included in this study. ...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ajo.2008.02.013
更新日期:2008-07-01 00:00:00
abstract:PURPOSE:To investigate the complication profile and the long-term functional outcome of combined pars plana vitrectomy and scleral-fixated sutured posterior chamber lens (PC IOL) implantation. DESIGN:Retrospective, consecutive, interventional case series. METHODS:The records of 63 patients (mean age, 67.5 years) were...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ajo.2007.05.014
更新日期:2007-09-01 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)74670-7
更新日期:1981-11-01 00:00:00
abstract:PURPOSE:To report a case of pityriasis rubra pilaris (PRP)-induced bilateral lower eyelid cicatricial ectropion that resolved with systemic low-dose methotrexate. DESIGN:Observational case report. METHODS:A retrospective case review of a patient with cicatricial ectropion caused by PRP. RESULTS:A 82-year-old female ...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ajo.2006.11.038
更新日期:2007-04-01 00:00:00
abstract::Four patients (three men, 32, 43, and 53 years old, and one 37-year-old woman) with syphilitic neuroretinitis had cerebrospinal fluid evidence of neurosyphilis. Therapy failed in one patient given penicillin G benzathine intramuscularly and it may have failed in a second patient. Another treatment failure occurred in ...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/0002-9394(83)90268-4
更新日期:1983-04-01 00:00:00
abstract::Subretinal neovascularization was demonstrated in a subhuman primate eye (Macaca speciosa) one year after the internal carotid injection of yeast-phase Histoplasma capsulatum. In this animal model of ocular histoplasmosis, initial injection of viable H. capsulatum results in the development of self-limiting acute mult...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/0002-9394(85)90790-1
更新日期:1985-08-15 00:00:00
abstract:PURPOSE:To report on the presence of retinal pigment epithelium (RPE) humps in high myopia, and to describe the distinctive features from pathologic RPE detachments and choroidal neovascularizations (CNVs). DESIGN:Retrospective cross-sectional study. METHODS:Charts and imaging studies of highly myopic patients presen...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ajo.2017.07.013
更新日期:2017-10-01 00:00:00
abstract::An 11-year-old black boy complained of intermittent occipital headaches with nausea and projectile vomiting. Previous skin and lung biopsy specimens were interpreted as histiocytosis X. Cranial computed tomographic scanning disclosed a mass lesion in the region of the choroid plexus of the left lateral ventricle. This...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
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更新日期:1982-02-01 00:00:00
abstract:PURPOSE:To investigate the role of corneal hysteresis (CH) as a risk factor for development of glaucoma. DESIGN:Prospective observational cohort study. METHODS:Two hundred and eighty-seven eyes of 199 patients suspected of having glaucoma were followed for an average of 3.9 ± 1.8 years. All eyes had normal visual fie...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ajo.2017.12.018
更新日期:2018-03-01 00:00:00
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journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ajo.2019.05.028
更新日期:2019-11-01 00:00:00
abstract::We conducted electrophysiologic tests of the toxic effects of fluorouracil on 26 albino rabbit eyes. Fluorouracil concentrations of 10(-7) g/ml, 10(-6) g/ml, and 10(-5) g/ml produced no significant changes in the b-wave amplitudes of the electroretinogram. A concentration of 10(-4) g/ml, however, reduced the b-wave am...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
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更新日期:1983-11-01 00:00:00
abstract:PURPOSE:To evaluate management options for acutely symptomatic stage I macular holes, and vitrectomy with intraocular gas tamponade for advanced stage I macular holes. METHODS:Retrospective noncomparative study. SETTING:Clinical practice. STUDY POPULATION:Acutely symptomatic stage I macular holes. MANAGEMENT OPTIONS...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0002-9394(01)01266-1
更新日期:2002-02-01 00:00:00
abstract:PURPOSE:To describe microscopic changes in the structure of human sclera immediately after enucleation (negative control group) and to compare them after being stored for three months in four different media: pure glycerin, absolute alcohol, benzalkonium chloride diluted in absolute alcohol (1:5000), and benzalkonium c...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ajo.2008.05.015
更新日期:2008-09-01 00:00:00
abstract:PURPOSE/METHODS:We examined a patient with progressive outer retinal necrosis, which is presumably caused by the varicella-zoster virus in patients with the acquired immunodeficiency syndrome. RESULTS/CONCLUSIONS:The patient was successfully treated with a combination of intravitreal ganciclovir and oral sorivudine. T...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0002-9394(14)71242-5
更新日期:1995-04-01 00:00:00
abstract::Two groups of patients, 37 with primary basal cell carcinoma of the eyelid and 16 with basal cell carcinoma of the eyelid previously treated by other physicians were reviewed. All of the tumors were excised with at least 3 to 4 mm of normal-appearing tissue at each margin of resection. All of the excised specimens wer...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/0002-9394(79)90358-1
更新日期:1979-06-01 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:PURPOSE:To report a case of chronic recurrent varicella virus epithelial keratitis in a child. DESIGN:Case report. METHODS:Clinical examination and polymerase chain reaction analysis of corneal epithelium. RESULTS:A 10-year-old healthy child developed chronic recurrent varicella virus keratitis with pseudodendrites ...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ajo.2004.12.014
更新日期:2005-06-01 00:00:00
abstract:PURPOSE:We report a case of a submacular surgery complicated by a choroidal neovascular membrane at the retinotomy site. METHOD:The patient underwent submacular surgery for the removal of an idiopathic choroidal neovascular membrane. RESULT:Three weeks after surgery, the patient developed a choroidal neovascular memb...
journal_title:American journal of ophthalmology
pub_type: 杂志文章
doi:10.1016/s0002-9394(14)70499-4
更新日期:1996-11-01 00:00:00