Abstract：
PURPOSE:To describe patients with late-onset pseudoxanthoma elasticum (PXE) associated with a likely hypomorphic ABCC6 variant. DESIGN:Retrospective observational case series. METHODS:Clinical evaluation, multimodal retinal imaging, genetic testing, and molecular modeling. RESULTS:Three patients, in whom vision symptoms first arose at 80 years of age or later, showed age-related macular degeneration (AMD)-like fundus changes. However, features characteristic of PXE, including discrete angioid streaks and reduced fluorescence on late-phase indocyanine green angiography, prompted genetic testing which revealed the c.1171A>G variant in combination with a large deletion in the ABCC6 gene in each case. None of the patients had obvious skin changes or cardiovascular disease atypical for their age. Comparative molecular modeling supported the hypothesis that the c.1171A>GABCC6 variant acted as a hypomorphic variant. CONCLUSIONS:Late-onset PXE extends the spectrum of ectopic calcification disorders caused by mutations in ABCC6 and may clinically be limited to the eye, mimicking AMD. Patients may be identified based on specific ocular changes, whereas skin and cardiovascular changes may remain ambiguous. The study provides evidence for a role for hypomorphic ABCC6 variants in the pathogenesis of PXE.
journal_name
Am J Ophthalmoljournal_title
American journal of ophthalmologyauthors
Charbel Issa P,Tysoe C,Caswell Rdoi
10.1016/j.ajo.2020.05.009subject
Has Abstractpub_date
2020-10-01 00:00:00pages
255-260eissn
0002-9394issn
1879-1891pii
S0002-9394(20)30239-7journal_volume
218pub_type
杂志文章abstract：PURPOSE:To assess the accuracy with which the Keratron keratoscope (Optikon 2000, Rome, Italy) measured astigmatic test surfaces by a profile reconstruction algorithm within a plane geometry model and to discriminate between error caused by the model and error caused by other factors. METHODS:Height was reported by th...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)70633-6
更新日期：1996-06-01 00:00:00
abstract：PURPOSE:To assess the effect of Ahmed glaucoma valve implants on corneal endothelial cell density (ECD) in children with uveitic glaucoma. DESIGN:Cross-sectional study. METHODS:setting: Institutional. patientpopulation: Eighty eyes from 42 patients diagnosed with uveitis before the age of 16. Twenty-eight eyes had an...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2012.09.001
更新日期：2013-03-01 00:00:00
abstract：:We examined 242 healthy neonates. Five developed transient tonic downward deviation of the eyes and eight showed any resultant visual, systemic, or neurologic abnormality. However, five of the 22 children with neonatal skew deviation developed a subsequent comitant horizontal stabismus. Although transient supranuclear...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(80)90292-5
更新日期：1980-05-01 00:00:00
abstract：:A 2,000-g infant boy had many features of the Smith-Lemli-Opitz syndrome (prenatal growth deficiency and developmental retardation, microcephaly with unusual facies, hypospadias, and feeding difficulties) as well as sclerocornea. The association of this rare eye finding with this rare congenital syndrome is unique. Su...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(77)90327-0
更新日期：1977-07-01 00:00:00
abstract：:We studied four patients with anisocoria and the pigmentary dispersion syndrome. In all patients, the larger pupil was on the side of the greater iris transillumination. The amount of anisocoria was between 0.5 and 1.5 mm and was the same in both the light and dark. There was no blepharoptosis, and all pupils dilated ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)77063-1
更新日期：1990-12-15 00:00:00
abstract：PURPOSE:We describe a case demonstrating a submacular deposition of triamcinolone acetonide (TA) after a TA-assisted vitrectomy for retinal detachment. DESIGN:Interventional case report. METHODS:A 48-year-old Japanese man with rhegmatogenous retinal detachment in his left eye underwent a TA-assisted vitrectomy, endol...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(02)01917-7
更新日期：2003-02-01 00:00:00
abstract：PURPOSE:To determine whether delayed repair of traumatic canalicular laceration affects the final outcome. DESIGN:Retrospective case series. METHODS:The medical records of 334 patients who underwent primary traumatic canalicular laceration repair were retrospectively reviewed. Patients were divided into 2 groups acco...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2017.08.006
更新日期：2017-10-01 00:00:00
abstract：PURPOSE:The purpose of this study was to compare the perioperative parameters of quadrant, sextant, and grid lens fragmentation patterns in femtosecond laser-assisted cataract surgery (FLACS). DESIGN:Prospective randomized clinical trial. METHODS:Setting: Eye Center of the Second Affiliated Hospital, School of Medici...
journal_title：American journal of ophthalmology
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.ajo.2019.12.017
更新日期：2020-05-01 00:00:00
abstract：:The diameter of retinal arterioles, venules, and their macular branches was measured before and after macular laser photocoagulation in one eye each of six men and eight women with diabetic macular edema. The macular arteriolar branches constricted 20.2% (P < .001) and the venular branches constricted 13.8% (P < .001)...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)73526-3
更新日期：1993-01-01 00:00:00
abstract：PURPOSE:To evaluate long-term complications related to glaucoma drainage devices in patients undergoing Boston type 1 keratoprosthesis surgery. DESIGN:Retrospective case series. METHODS:All patients who underwent Boston type 1 keratoprosthesis surgery at the University of California, Davis, between 2004 and 2010 were...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2011.01.034
更新日期：2011-08-01 00:00:00
abstract：PURPOSE:To report one surgeon's experiences with bilateral lateral rectus resections in dysthyroid ophthalmopathy patients with residual esotropia after initial bilateral medial rectus recession. DESIGN:Retrospective interventional case series evaluating outcomes. METHODS:Medical records for patients with dysthyroid ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2016.08.029
更新日期：2016-11-01 00:00:00
abstract：PURPOSE:To determine the test-retest reliability and diagnostic accuracy of a binocular optical coherence tomography (OCT) prototype (Envision Diagnostics, El Segundo, California, USA) for pupillometry. DESIGN:Assessment of diagnostic reliability and accuracy. METHODS:Fifty participants with relative afferent pupilla...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2020.02.013
更新日期：2020-06-01 00:00:00
abstract：PURPOSE:To investigate the prognostic implication of subfoveal choroidal thickness on treatment outcome after intravitreal ranibizumab injections for typical exudative age-related macular degeneration (AMD). DESIGN:Retrospective study. METHODS:A total of 40 eyes of 37 patients who completed 6-month follow-up were ana...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2014.01.019
更新日期：2014-05-01 00:00:00
abstract：:Of 76 members of a large pedigree with familial aniridia, 61% of the 38 affected patients had visual acuity of 6/9 (20/30) or better and only 5% had acuity of 6/60 (20/200) or worse. Cataracts were present in 18% of affected patients; glaucoma in 13%; and strabismus in 34%. Sixteen percent of affected patients had str...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(77)90139-8
更新日期：1977-05-01 00:00:00
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 re...
journal_title：American journal of ophthalmology
pub_type： 杂志文章,评审
doi：10.1016/j.ajo.2018.03.004
更新日期：2018-06-01 00:00:00
abstract：:We examined three affected members of a Chinese-American family with Bietti's crystalline retinopathy. The clinical characteristics of a 24-year-old proband are contrasted to the clinical findings of her grandmother, for whom we have 26 years of follow-up data. Lymphocytes and fibroblasts from a skin biopsy of the gra...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)76572-9
更新日期：1994-11-15 00:00:00
abstract：PURPOSE:To evaluate for which range of refractive error the optic disk size depends on, or is independent of, the refractive error. DESIGN:Clinical observational study. METHODS:The study included 1999 eyes of 1011 subjects with a mean refractive error of -0.97 +/- 2.72 diopters (range, -24.25 to +9.4 diopters). Optic...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2004.07.047
更新日期：2005-02-01 00:00:00
abstract：PURPOSE:To report the sensitivity and specificity of B-scan ultrasonography to detect macular thickening. DESIGN:Observational case series. METHODS:Seventy-seven eyes of 40 consecutive patients (age range, 7-80 years) in a retinal specialty practice were examined. A single masked ultrasound operator performed B-scan ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(02)02273-0
更新日期：2003-07-01 00:00:00
abstract：PURPOSE:To evaluate visual and optical quality of the implantable collamer lens for different powers and sizes of incision surgery. DESIGN:Prospective study in humans. METHODS:An adaptive optics visual simulator was used to measure 3 powers of implantable collamer lenses and simulate the implantable collamer lens wav...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2012.09.031
更新日期：2013-03-01 00:00:00
abstract：PURPOSE:To determine the aqueous levels of vascular endothelial growth factor (VEGF) and pigment epithelium-derived factor (PEDF) in patients with active polypoidal choroidal vasculopathy (PCV) and choroidal neovascularization (CNV) secondary to age-related macular degeneration (AMD) and pathologic myopia. DESIGN:Pros...
journal_title：American journal of ophthalmology
pub_type： 杂志文章,多中心研究
doi：10.1016/j.ajo.2005.10.012
更新日期：2006-03-01 00:00:00
abstract：:To investigate whether Fuchs' heterochromic iridocyclitis may be an immune complex vasculitis, we used an immunofluorescence technique to detect immunoglobulins and complement in iris biopsy specimens from nine patients with Fuchs' heterochromic iridocyclitis, 12 patients with other types of uveitis, and nine patients...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)75757-5
更新日期：1992-01-15 00:00:00
abstract：:Topical ketoconazole (2% ointment three times per day for three weeks) markedly reduced the severity of keratitis produced with Candida albicans inoculation in the right eyes of 20 rabbits. Clinical scores of affected eyes were significantly lower in the treated eyes than in the controls, which consisted of the 20 ino...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(86)90084-x
更新日期：1986-10-15 00:00:00
abstract：PURPOSE:To explore the impact of intracameral air tamponade pressure and duration on graft attachment and rebubbling rates. DESIGN:A prospective, interventional, nonrandomized study. METHODS:setting: Department of Ophthalmology, Charité - Universitätsmedizin Berlin. STUDY POPULATION:One hundred seventeen patients wh...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2017.03.021
更新日期：2017-06-01 00:00:00
abstract：:We managed three cases of congenital iris stromal cysts and compared them with 22 cases in the published reports to delineate the clinical features of this condition and determine the best treatment. Our first patient, a 5-month-old girl, had injection of a cyst with trichloroacetic acid, but developed a cataract and ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章,评审
doi：10.1016/s0002-9394(14)71291-7
更新日期：1993-08-15 00:00:00
abstract：PURPOSE:To report a patient with ocular ischemic syndrome due to an internal carotid artery stenosis in whom we confirmed improved retinal blood flow noninvasively after carotid endarterectomy. DESIGN:Observational case report. METHODS:Retinal flowmetry. RESULTS:In a 72-year-old hypertensive man with a transient isc...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(02)01531-3
更新日期：2002-08-01 00:00:00
abstract：:A 65-year-old white man had an unusual disseminated lymphoid tumor that first appeared in the subconjunctival tissues of the right eye. The tumor later appeared in the skin, lymph nodes, and left upper eyelid and orbit. A monoclonal serum IgA spike was present although the urine did not contain Bence Jones proteins. T...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(75)90082-3
更新日期：1975-02-01 00:00:00
abstract：PURPOSE:To examine the relationships of retinal vascular caliber with optic disc, macular, and retinal nerve fiber layer (RNFL) characteristics as measured with optical coherence tomography (OCT). DESIGN:Observational cross-sectional study. METHODS:This study included a subset of healthy children enrolled in the Sing...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2009.04.006
更新日期：2009-09-01 00:00:00
abstract：PURPOSE:To report the cotransmission of retinitis punctata albescens (RPA) and congenital sensorineural deafness. METHODS:Case reports of two siblings with nyctalopia and profound bilateral sensorineural deafness. RESULTS:The affected siblings, an 11-year-old female and a 7-year-old male, presented with decreased vis...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(99)00060-4
更新日期：1999-08-01 00:00:00
abstract：:Dipivalyl epinephrine, 0.1%, though slightly less effective in decreasing intraocular pressure, showed significantly fewer side effects than epinephrine hydrochloride, 2%. Seventeen patients with symmetrically increased intraocular pressures who completed a six-month double-masked crossover study showed a significant ...
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(79)90142-9
更新日期：1979-02-01 00:00:00
abstract：PURPOSE:To report a case of Bartonella henselae infection. DESIGN:Observational case report. METHODS:Review of the clinical, laboratory, photographic, and angiographic records of a patient with cat scratch disease associated with central retinal artery and vein occlusion, neovascular glaucoma, and severe vision loss....
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(03)00784-0
更新日期：2004-01-01 00:00:00
