Abstract:
PURPOSE:To describe the clinical features of a rare case of NBAS-SOPH-like mutations; to emphasize special aspects of the ocular and oro-facial regions. METHODS:Case report. CASE DESCRIPTION:We present a 5-year-old girl initially examined for her dysmorphic features, mental delay, strabismus, and high myopia. During the funduscopic examination, we observed optic atrophy with narrow thinned arterioles with the light brown reflex of the central retina. A genetic assessment revealed NBAS-SOPH like mutation. An assessment by a team of orthodontists defined typical characteristics. CONCLUSIONS:NBAS mutations can also cause complex disease with a broad clinical spectrum ranging from isolated recurrent acute liver failure (RALF) to a multisystemic phenotype. Due to the heterogeneity of the expressions, a multispeciality approach to this situation is recommended.
journal_name
Eur J Ophthalmoljournal_title
European journal of ophthalmologyauthors
Nucci F,Lembo A,Farronato M,Farronato G,Nucci P,Serafino Mdoi
10.1177/1120672119836335subject
Has Abstractpub_date
2020-03-01 00:00:00pages
NP12-NP15issue
2eissn
1120-6721issn
1724-6016journal_volume
30pub_type
杂志文章abstract:PURPOSE:To analyze the clinical characteristics and treatment outcomes of patients with bleb-associated endophthalmitis (BAE) in a Chinese population. METHODS:A retrospective review of patients treated for BAE between January 2003 and December 2010 in a single institution was performed. Data on visual acuity (VA), cli...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.5301/ejo.5000110
更新日期:2012-09-01 00:00:00
abstract:BACKGROUND:Lowe syndrome is a rare X-linked disease that is characterized by renal dysfunction, developmental delays, congenital cataracts and glaucoma. Mutations in the oculocerebral renal syndrome of Lowe (OCRL) gene are found in Lowe syndrome patients. Although loss of vision is a major concern for families and phys...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/1120672120920544
更新日期:2020-09-01 00:00:00
abstract::Abstracts from the 25th Meeting of the European Association for the Study of Diabetes Eye Complications Study Group (EASDec). Turin, Italy - June 26-28, 2015. ...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.5301/ejo.5000612
更新日期:2015-04-22 00:00:00
abstract:PURPOSE:Cystoid macular edema (CME) is a severe complication and a major cause of visual loss in patients with intraocular infection. In this type of CME, therapeutic strategies remain controversial. We aimed to investigate the efficacy and tolerability of interferon (IFN)-α2a in cystoid macular edema caused by intraoc...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.5301/ejo.5000591
更新日期:2015-09-01 00:00:00
abstract:PURPOSE:To evaluate the safety and efficacy of sealed implantation, a simple technique for implanting foldable intraocular lenses (IOLs). METHODS:This was a retrospective study including consecutive patients who underwent phacoemulsification cataract using the sealed implantation technique. Sealed implantation is a te...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.5301/ejo.5000997
更新日期:2017-08-30 00:00:00
abstract:PURPOSE:To compare the IOP readings of an ocular blood flow (OBF) tonograph (OBF Labs UK Ltd) with Goldmann applanation tonometry. METHODS:194 patients were studied. In group 1, the software version 8.2 of the OBF tonograph was used in 214 eyes of 107 patients and in group 2, the 11.2 version of the tonograph was used...
journal_title:European journal of ophthalmology
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:1998-07-01 00:00:00
abstract:PURPOSE:To investigate the low mesopic contrast sensitivity function (LMCSF) of patients implanted with different modern optical bifocal and trifocal designs of multifocal intraocular lenses (mfIOLs). METHODS:This prospective, comparative, nonrandomized consecutive case series included 180 eyes that underwent cataract...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.5301/ejo.5000777
更新日期:2016-11-04 00:00:00
abstract:PURPOSE:To investigate the efficacy of intravitreal dexamethasone implants (DEX) after anti-VEGF failure in retinal vein occlusion macular oedema. METHODS:Retrospective cohort study of DEX implant (0.7 mg) given after anti-VEGF 'failure'. Switch to DEX occurred if a ⩽ +5 ETDRS letter gain and ⩽20% reduction in central...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/1120672120978355
更新日期:2020-12-27 00:00:00
abstract:BACKGROUND/AIMS:To assess structural and functional outcomes of treatment with intravitreal aflibercept (®Eylea) for diabetic macular oedema in treatment-naïve patients. METHODS:Sixty-four eyes receiving intravitreal anti-vascular endothelial growth factor therapy were included in the data analysis of this retrospecti...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/1120672120925034
更新日期:2020-05-19 00:00:00
abstract:PURPOSE:To evaluate the choroidal vascularity index of eyes for acute and chronic central serous chorioretinopathy patients using swept-source optical coherence tomography generated en-face scans. METHODS:This was a retrospective study, in which slabs of en-face optical coherence tomography scans, at 5 μm intervals, s...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/1120672120908719
更新日期:2020-02-27 00:00:00
abstract:PURPOSE:To evaluate epithelial healing and visual outcome after laser-assisted subepithelial keratectomy (LASEK) without alcohol de-epithelialization and to compare this technique to photorefractive keratectomy (PRK) in myopia. METHODS:In a series of 1953 patients undergoing bilateral myopic PRK, an epithelial flap co...
journal_title:European journal of ophthalmology
pub_type: 临床试验,杂志文章
doi:10.1177/112067210301300802
更新日期:2003-10-01 00:00:00
abstract::A 6-year-old boy was referred to our hospital for sudden blurring vision in the left eye. An ophthalmological evaluation showed white endothelial keratic precipitates and increased intra-ocular pressure. To our knowledge, this is the first reported case of hypertensive uveitis in children under 10 years of age and we ...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/1120672120954050
更新日期:2020-08-27 00:00:00
abstract:PURPOSE:To report variation of choroidal thickness (CT) and choroidal vascularity index (CVI) in subjects with drusen and subjects with reticular pseudodrusen (RPD) compared with healthy individuals using the Spectral-domain (SD)-Optical Coherence Tomography with enhanced depth imaging (EDI) system. DESIGN:A prospecti...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/1120672121992009
更新日期:2021-01-28 00:00:00
abstract:PURPOSE:To evaluate changes at the anterior chamber angle during Valsalva maneuver in eyes suspected to have a primary adult glaucoma. METHODS:Seventy-six consecutive patients underwent recording of applanation tonometry, measurement of the anterior chamber angle recess, angle opening distance, angle recess area, scle...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/112067210601600114
更新日期:2006-01-01 00:00:00
abstract:PURPOSE:To quantify the maximal level of temperature and the time the maximal temperature is achieved and correlate the temperature parameters to the mean rate of endothelial cell loss after standardized ultrasound delivery assisted with four viscoelastic substances or different temperature of balanced salt solution (B...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:
更新日期:2005-11-01 00:00:00
abstract:PURPOSE:To investigate color vision and its relation with the type of amblyopia and visual acuity of amblyopic eyes. METHODS:In this prospective study, 67 amblyopic eyes of 64 patients, aged from 4 to 13 years (mean 6.8 +/- 2.1) and 26 eyes of 13 control subjects aged from 5 to 13 years (mean 7.3 +/- 1.6) were examine...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/112067210001000113
更新日期:2000-01-01 00:00:00
abstract:PURPOSE:To report clinical findings and surgical management of 4 patients with congenital nystagmus who presented with a new or reversal of their original horizontal compensatory head posture (CHP) after Anderson-Kestenbaum (A-K) surgery. METHOD:Retrospective chart review. RESULTS:All 4 patients demonstrated a 40°-45...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.5301/EJO.2011.8356
更新日期:2012-03-01 00:00:00
abstract:PURPOSE:To describe a case of bilateral eyelid-confined giant cell angiofibroma (GCAF) in a patient with a slowly progressive bilateral eyelid swelling. METHODS:A 40-year-old man with a 5-year history of slowly progressive bilateral eyelid swelling, severe functional impairment, and bilateral cosmetic deformity was st...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/112067211002000608
更新日期:2010-11-01 00:00:00
abstract:PURPOSE:To evaluate the efficacy and safety of fixed-combination brimonidine tartrate 0.2%/timolol 0.5% ophthalmic solution dosed BID and demonstrate non-inferiority to concomitant use of brimonidine tartrate 0.2% BID and timolol 0.5% BID in glaucoma and ocular hypertension patients with intraocular pressure (IOP) unco...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.5301/EJO.2008.4076
更新日期:2005-01-01 00:00:00
abstract:PURPOSE:To verify the functional and anatomical results of retinal detachments related to choroidal coloboma. METHODS:Seven eyes with retinal detachment secondary to retinal breaks at the margin of or within a choroidal coloboma were analysed retrospectively. RESULTS:Scleral buckling was performed in five of the seve...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/112067210201200408
更新日期:2002-07-01 00:00:00
abstract:PURPOSE:To assess the association between appearance of dissociated optic nerve fiber layer (DONFL) after internal limiting membrane (ILM) peeling and changes in the macular nerve fiber layer (NFL) area by spectral-domain optical coherence tomography (SD-OCT). METHODS:This study included 132 consecutive patients who h...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.5301/ejo.5001067
更新日期:2018-05-01 00:00:00
abstract:PURPOSE:To investigate visual function and ocular features in children with attention deficit hyperactivity disorder (ADHD). METHODS:Fifty-one children underwent a detailed ophthalmologic evaluation. Thirty-two were diagnosed with ADHD, and 19 children with attention deficit disorder (ADD). The mean age was 9.9±3.1 ye...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.5301/ejo.5000145
更新日期:2012-11-01 00:00:00
abstract:PURPOSE:The imaging quality provided by a piggyback integrated by a monofocal intraocular lens (IOL) + a bifocal IOL of zero power and +3.75 diopters of addition is compared with the optics quality of a simple multifocal IOL of the same power and addition. METHODS:The imaging quality was evaluated by determining the m...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/112067211002000109
更新日期:2010-01-01 00:00:00
abstract:PURPOSE:To survey the routine practice of consultant ophthalmic surgeons in the United Kingdom in preventing postoperative endophthalmitis following cataract surgery. METHODS:This is a cross-sectional questionnaire-based study. A questionnaire was sent to consultant ophthalmic surgeons in university teaching hospital ...
journal_title:European journal of ophthalmology
pub_type: 杂志文章,多中心研究
doi:10.1177/112067210601600306
更新日期:2006-05-01 00:00:00
abstract:PURPOSE:To compare topographic indices of surface regularity in dry eye patients and in normal subjects (controls) and to investigate the short-term effect of lacrimal punctal plugs on these indices in dry eye patients. METHODS:The surface regularity index (SRI) and surface asymmetry index (SAI) of the TMS-2 corneal t...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/112067210101100202
更新日期:2001-04-01 00:00:00
abstract:AIMS:To investigate alterations in deep retinal vascular complex (DVC) in patients with non-neovascular intermediate AMD (iAMD), treatment-naïve quiescent macular neovascularization (qMNV), exudative AMD (eAMD) by means of OCT angiography (OCTA). METHODS:Patients with iAMD, qMNV, eAMD and healthy controls presenting i...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/1120672120968758
更新日期:2020-11-03 00:00:00
abstract:PURPOSE:To report a case of posterior microphthalomos (PM) related to PRSS56 gene mutation with long term follow up with multimodal imaging findings. METHODS:Single retrospective case report. RESULTS:A 43-year old male patient presented in 2009 with bilateral reduced vision. Clinical examination and multimodal imagin...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/1120672120949756
更新日期:2020-08-17 00:00:00
abstract:PURPOSE:To describe a case of sympathetic ophthalmia (SO) associated with ocular and cerebral vasculitis. METHODS:The authors report a 38-year-old woman who presented with bilateral uveitis 7 years after a penetrating trauma to the right eye. Ocular examination included fundus fluorescein and indocyanine green angiogr...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/112067210301300614
更新日期:2003-07-01 00:00:00
abstract:PURPOSE:The aim of this study was to report the 12-year longitudinal trends in indication and corneal transplantation techniques in France from 2004 to 2015. RESULTS:The records of all corneal transplantations performed from 2004 to 2015 in France were retrospectively reviewed. The patient indications and types of tra...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/1120672118762224
更新日期:2018-09-01 00:00:00
abstract:PURPOSE:To report a case of Escherichia coli endophthalmitis after trans-scleral resection of an uveal melanoma. METHODS:A large ciliary body melanoma was treated by trans-scleral resection and full-thickness sclerectomy because of epibulbar tumor extrusion, followed by adjuvant ruthenium plaque therapy. RESULTS:Two ...
journal_title:European journal of ophthalmology
pub_type: 杂志文章
doi:10.1177/112067210201200517
更新日期:2002-09-01 00:00:00