Rare variants in the complement factor I (CFI) gene, associated with low serum factor I (FI) levels, are strong risk factors for developing the advanced stages of age‐related macular degeneration (AMD). No studies have been undertaken on... more
Rare variants in the complement factor I (CFI) gene, associated with low serum factor I (FI) levels, are strong risk factors for developing the advanced stages of age‐related macular degeneration (AMD). No studies have been undertaken on the prevalence of disease‐causing CFI mutations in patients with geographic atrophy (GA) secondary to AMD. A multicenter, cross‐sectional, noninterventional study was undertaken to identify the prevalence of pathogenic rare CFI gene variants in an unselected cohort of patients with GA and low FI levels. A genotype‐phenotype study was performed. Four hundred and sixty‐eight patients with GA secondary to AMD were recruited to the study, and 19.4% (n = 91) demonstrated a low serum FI concentration (below 15.6 μg/ml). CFI gene sequencing on these patients resulted in the detection of rare CFI variants in 4.7% (n = 22) of recruited patients. The prevalence of CFI variants in patients with low serum FI levels and GA was 25%. Of the total patients recruited, 3.2% (n = 15) expressed a CFI variant classified as pathogenic or likely pathogenic. The presence of reticular pseudodrusen was detected in all patients with pathogenic CFI gene variants. Patients with pathogenic CFI gene variants and low serum FI levels might be suitable for FI supplementation in therapeutic trials.
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SUMMARY The purpose of this study was to determine the efficacy of combined intravitreal bevacizumab and triamcinolone in the treatment of macular edema due to retinal vein occlusion. A prospective randomized trial was conducted in the... more
SUMMARY The purpose of this study was to determine the efficacy of combined intravitreal bevacizumab and triamcinolone in the treatment of macular edema due to retinal vein occlusion. A prospective randomized trial was conducted in the Department of Ophthalmology, Osijek University Hospital Centre in Osijek including 51 patients divided into three groups depending on the drug received. The first group received 1.25 mg intravitreal bevacizumab, the second group received 1 mg intravitreal triamcinolone, and the third group received a combination of 1.25 mg bevacizumab and 1 mg intravitreal triamcinolone on the same day. Changes in the central macular thickness, intraocular pressure and visual acuity were monitored during the follow up period. The retinal perfusion status was evaluated by fluorescein angiography. The group that received combined treatment had better outcome in terms of reduction of macular thickness. There was no statistically significant intraocular pressure elevation...
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(1) To investigate and integrate the tomographic, angiographic and electrodiagnostic findings in pattern dystrophy. (2) To correlate visual acuity (VA) with central macular thickness (CMT), the electrooculogram (EOG) and pattern... more
(1) To investigate and integrate the tomographic, angiographic and electrodiagnostic findings in pattern dystrophy. (2) To correlate visual acuity (VA) with central macular thickness (CMT), the electrooculogram (EOG) and pattern electroretinogram (PERG). A retrospective study of patients with pattern dystrophy. 52 eyes of 26 patients were examined. Thirty-three eyes had adult-onset foveomacular vitelliform dystrophy, 8 had multifocal pattern dystrophy, 6 had butterfly pattern dystrophy and 2 had reticular pattern dystrophy. SD-OCT demonstrated hyperreflectivity between the retinal pigment epithelium (RPE)/ Bruch's complex, and the junction of the inner and outer segments (IS/OS) of the photoreceptors. Disruption of the IS/OS was observed in 20, and disruption of the end tips of photoreceptors was clearly visible in eight eyes. 11 eyes showed abnormal focal hyper-reflectivity originating from the RPE towards the outer nuclear layer (ONL), and in two eyes this appeared to originate from the junction of the IS/OS towards the ONL. EDTs revealed borderline or a reduced EOG in 25 (51%) and a degraded PERG in 41eyes (83.6%) with the P50 component reduced in 23 and N95 in 18. CMT and Arden ratio did not show any significant correlation with VA. We observed relatively consistent features between different types of pattern dystrophies. In addition we observed novel findings on 3D-OCT. We also report 3D-OCT features of reticular, multifocal and butterfly pattern dystrophies. The degraded PERG results observed in our study indicate that the disease process in this condition is not limited to the RPE.
Research Interests: Ophthalmology, Optical coherence tomography, Re, Medicine, Retinal Pigment Epithelium, and 15 moreHumans, Female, Male, Three Dimensional Imaging, Retinal, Clinical Sciences, Aged, Middle Aged, Optometry and Ophthalmology, Adult, Public health systems and services research, Retrospective Studies, Electrooculography, Dystrophy, and retinal dystrophies
Objectivo: Descrever a história natural e as características imagiológicas de uma série de casos clínicos de síndrome de múltiplas manchas brancas evanescentes (MEWDS). Material e métodos: Estudo retrospetivo de três doentes com MEWDS... more
Objectivo: Descrever a história natural e as características imagiológicas de uma série de casos clínicos de síndrome de múltiplas manchas brancas evanescentes (MEWDS). Material e métodos: Estudo retrospetivo de três doentes com MEWDS observadas no Depar- tamento de Retina Médica do Moorfields Eye Hospital. Foi realizado um exame oftalmológico completo, avaliação com grelha de Amsler, perimetria estática computorizada, retinografias a cores e com filtro vermelho, tomografia de coerência óptica Spectralis® (OCT Spectralis®), auto- fluorescência (FAF), angiografias fluoresceínica (FA) e com verde de indocianina (ICGA). Resultados: Foram observadas três doentes do sexo feminino, com idade média de 26 anos, previamente saudáveis, com queixas de diminuição aguda e unilateral da acuidade visual (AV), fotópsias e escotomas centrais/paracentrais. A AV inicial média foi de 6/11 e à fundoscopia obser- vou-se a presença de granularidade foveal associada a lesões amarelo-esbranquiçadas, dispers...
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Purpose: Spectral Domain OCT angiography (OCT-A) provides high resolution imaging of the chorio-retinal vasculature and may be used as a non-invasive alternative to diagnostic retinal dye angiography. The OCTANE study is first study to... more
Purpose: Spectral Domain OCT angiography (OCT-A) provides high resolution imaging of the chorio-retinal vasculature and may be used as a non-invasive alternative to diagnostic retinal dye angiography. The OCTANE study is first study to define feasibility of using OCT-A within a busy, real-world clinical setting. The purpose was to define acceptability of OCTA by patients and technicians in routine clinical practice. Methods: Following ethical approval, patients attending for the care of a retinal condition at one of seven UK hospitals were randomly recruited. 284 patients underwent standardised imaging including OCT-A with Spectralis (Heidelberg Engineering, Germany). Patient and technician feedback was collected on a standardised questionnaire, designed for this study. Analysis was divided into “patient” and “technician” acceptability. 51 patients were excluded due to incomplete data, and a further 5 were …
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To determine the efficacy of strontium plaque (Sr90) brachytherapy for age-related macular degeneration (AMD) with subfoveal choroidal neovascularization (CNV). Randomized clinical trial. Eighty-eight eyes of 86 patients with subfoveal... more
To determine the efficacy of strontium plaque (Sr90) brachytherapy for age-related macular degeneration (AMD) with subfoveal choroidal neovascularization (CNV). Randomized clinical trial. Eighty-eight eyes of 86 patients with subfoveal CNV secondary to AMD were randomized either to plaque radiotherapy or to observation. Radiotherapy was given as episcleral brachytherapy using Sr90 plaques. Two different plaque types were used. Plaque I had a diameter of 8 mm and delivered a dose of 15 Gy at a depth of 1.75 mm in 54 minutes. With plaque II, the corresponding values were 4 mm, 12.6 Gy, and 11 minutes. The control group was observed without any treatment. The primary outcome measure was visual acuity at 6, 12, 24, and 36 months. Other outcome variables were contrast sensitivity, fluorescein angiographic, and clinically evaluated changes in the macula. Eighty-two patients (84 eyes [95%]) completed the 1-year follow-up, and 80 (93%) and 74 (86%) patients completed the 2- and 3-year follow-ups, respectively. At 6 months, visual loss of > or =3 lines occurred in 20% of treated patients and 42% of control patients (P = 0.031). At 12 months, a visual loss of > or =3 lines occurred in 45% (treated) and 56% (controls) (P = 0.325); at 24 months, in 73% and 71% (P = 0.914); and at 36 months, in 80% and 84% of patients (P = 0.591), respectively. Patients irradiated with plaque I had better results: a visual loss of > or =3 lines occurred in 6% at 6 months (P = 0.008, relative to controls), in 18% at 12 months (P = 0.007), in 59% at 24 months (P = 0.348), and in 71% at 36 months (P = 0.212). In patients treated with plaque II, the corresponding values were 29% (P = 0.032), 65% (P = 0.459), 83% (P = 0.317), and 80% (P = 0.687) at 6, 12, 24, and 36 months, respectively. The short-term clinical course of exudative AMD is affected by Sr90 brachytherapy, but by 12 months, there was no treatment benefit. This article contains additional online-only material available at http://www.ophsource.org/periodicals/ophtha.
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To compare the efficacy of the classic treatment of ocular toxoplasmosis (pyrimethamine, sulfadiazine, and prednisolone) with a regimen consisting of trimethoprim/sulfamethoxazole (co-trimoxazole) plus prednisolone. ... Fifty-nine... more
To compare the efficacy of the classic treatment of ocular toxoplasmosis (pyrimethamine, sulfadiazine, and prednisolone) with a regimen consisting of trimethoprim/sulfamethoxazole (co-trimoxazole) plus prednisolone. ... Fifty-nine patients with active ocular toxoplasmosis ...
Research Interests: Ophthalmology, Randomization, Adolescent, Comparative Study, Prospective studies, and 15 moreHumans, Child, Female, Animals, Male, Clinical Sciences, Eye, Middle Aged, Optometry and Ophthalmology, Pyrimethamine, Adult, Public health systems and services research, Combination drug therapy, Enzyme Linked Immunosorbent Assay, and immunoglobulin G
Background/Objectives Systemic levels of pro-inflammatory cytokines and activated complement components affect the risk and/or progression of neovascular age-related macular degeneration (AMD). This study investigated the effect of serum... more
Background/Objectives Systemic levels of pro-inflammatory cytokines and activated complement components affect the risk and/or progression of neovascular age-related macular degeneration (AMD). This study investigated the effect of serum pro-inflammatory cytokine levels and complement pathway activity on the clinical response to vascular endothelial growth factor (VEGF) inhibition in neovascular AMD. Methods Sixty-five patients with a new diagnosis of neovascular AMD were observed over a six-month period in a single-centre, longitudinal cohort study. At each visit, the visual acuity score (VAS), central macular thickness (CMT), serum levels of CRP, pro-inflammatory cytokines (TNF-α, IL-1β, IL-2, IL-6 and IL-8), and complement pathway activity were measured. Participant DNA samples were sequenced for six complement pathway single nucleotide polymorphisms (SNPs) associated with AMD. Results A statistically significant difference in VAS was observed for serum levels of TNF-α only: ther...
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Purpose: This article describes the clinical features and differential diagnosis of 4 cases of sector autosomal dominant (AD) retinitis pigmentosa (RP) studied with multimodal imaging, using autofluorescence (AF) imaging as a key... more
Purpose: This article describes the clinical features and differential diagnosis of 4 cases of sector autosomal dominant (AD) retinitis pigmentosa (RP) studied with multimodal imaging, using autofluorescence (AF) imaging as a key diagnostic tool. Methods: The current study is an observational case series of 4 patients with characteristic visual field (VF) defects. Ophthalmic examination, VF testing, spectral-domain optical coherence tomography (SD-OCT), electrodiagnostic tests (EDTs), AF imaging, and genetic testing were performed in the 8 eyes of 4 patients (1 female and 3 male). Results: In all 4 cases, fundus examination revealed retinal pigment epithelial changes mainly in the inferotemporal retinal quadrant. The optic discs looked healthy, with no evidence of glaucomatous neuropathy. In each case, AF showed a bilateral, well-demarcated, leaf-like perivascular area of patchy hypoautofluorescence surrounded by a halo of hyperautofluorescence. SD-OCT over the leaf-like area confir...
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Purpose: To describe the diagnostic complexities of a patient with acute zonal occult outer retinopathy. Case report: A healthy female presented with acute bilateral visual field loss and photopsia. On initial examination, her visual... more
Purpose: To describe the diagnostic complexities of a patient with acute zonal occult outer retinopathy. Case report: A healthy female presented with acute bilateral visual field loss and photopsia. On initial examination, her visual acuity, colour vision, fundus examination and fluorescein angiography were normal. Fundus autofluorescence, however, revealed scattered hyperautofluorescence in both eyes and electrodiagnostic tests were abnormal. A differential diagnosis including acute zonal occult outer retinopathy was postulated and serology requested. The patient’s past medical history included both breast and endometrial cancer and raised the possibility of cancer-associated retinopathy. A normal full-body positron emission tomography scan, negative antibodies for cancer-associated retinopathy and abnormal electroretinogram led to a diagnosis of acute zonal occult outer retinopathy. Conclusion: It has been more than 20 years since Gass first described the syndrome of acute zonal o...
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Background/Aims: To compare time tradeoff vision utilities from two developed Western countries to ascertain whether these vision-related, quality-of-life preferences are similar. Methods: Time tradeoff utilities were acquired from... more
Background/Aims: To compare time tradeoff vision utilities from two developed Western countries to ascertain whether these vision-related, quality-of-life preferences are similar. Methods: Time tradeoff utilities were acquired from ophthalmology patient populations with ophthalmic pathologic conditions by personal interview in Italy and the United States using a reliable and previously validated, standardized questionnaire. Results: Data from 47 consecutive Italian participants and 325 consecutive American participants were compared. The populations were matched for gender, age, and ophthalmic pathologic conditions. The utilities for the various vision sub-cohort levels, characterized according to vision in the better-seeing eye for the Italian/American cohorts were as follows: (1) 20/20 sub-cohort, Italian/American mean utilities = 0.82/0.91 (p = 0.10); (2) 20/25–20/30 sub-cohort, Italian/American mean utilities = 0.79/0.86, (p = 0.05); (3) 2040–20/100 sub-cohort, Italian/American ...
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Two cases of polypoidal choroidal vasculopathy (PCV) complicating benign choroidal nevus and their tomographic features at spectral-domain optical coherence tomography (SD-OCT) are reported. Two eyes with choroidal nevus and associated... more
Two cases of polypoidal choroidal vasculopathy (PCV) complicating benign choroidal nevus and their tomographic features at spectral-domain optical coherence tomography (SD-OCT) are reported. Two eyes with choroidal nevus and associated subretinal fluid underwent complete ophthalmological examination, SD-OCT, fundus fluorescein angiography, and indocyanine green angiography (ICGA). SD-OCT and ICGA confirmed the diagnosis of PCV in both cases. Ophthalmologists should be aware of this rare combination between choroidal nevus and PCV. If a choroidal nevus presents with subretinal fluid, this does not always herald malignant transformation, and PCV should be ruled out so that the correct treatment can be planned. [Ophthalmic Surg Lasers Imaging Retina. 2015;46:1062-1064.].
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Research Interests: Treatment Outcome, Optical coherence tomography, Visual acuity, Humans, Female, and 12 moreMale, Retina, Aged, Middle Aged, Optometry and Ophthalmology, Adult, Retrospective Studies, Retinal Diseases, Exudates and Transudates, Intravitreal Injections, Randomized Controlled Trials as Topic, and Angiogenesis inhibitors
A 31-year-old man presented with acute unilateral visual loss secondary to hand-foot-mouth disease (HFMD). Ophthalmic examination demonstrated best corrected visual acuity (BCVA) of 6/24 and a macular neurosensory detachment. He was... more
A 31-year-old man presented with acute unilateral visual loss secondary to hand-foot-mouth disease (HFMD). Ophthalmic examination demonstrated best corrected visual acuity (BCVA) of 6/24 and a macular neurosensory detachment. He was diagnosed with unilateral acute idiopathic maculopathy (UAIM), and multimodality imaging was performed. No treatment was warranted. At 3 months, BCVA was 6/5 and funduscopy revealed a juxtafoveal scar. Based on the evidence of the association between HFMD and UAIM, the authors refer to this condition as exudative maculopathy associated with HFMD. Multimodality imaging during acute and convalescent phases is useful to study this disorder and raises questions about choroidal and bilateral involvement. Ophthalmologists should be aware of this and query about systemic signs and symptoms.
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To describe a rare branch retinal vein occlusion (BRVO) followed by central retinal artery occlusion (CRAO) in a patient with Churg-Strauss syndrome (CSS). A 55-year-old man with a not yet diagnosed CSS developed a BRVO in the left eye... more
To describe a rare branch retinal vein occlusion (BRVO) followed by central retinal artery occlusion (CRAO) in a patient with Churg-Strauss syndrome (CSS). A 55-year-old man with a not yet diagnosed CSS developed a BRVO in the left eye and 1 year later a CRAO with painless and acute vision loss in the same eye. Medical history included bronchial asthma, history of allergy, eosinophilic pneumonia, bilateral pleuric and pericardial effusion, hypereosinophilia, and purpuric vasculitis. CRAO in the left eye was diagnosed by retinal whitening and a cherry red spot with coexisting old BRVO evidenced by previous laser photocoagulation. Corticosteroids and cyclophosphamide therapy improved his general condition but no visual recovery occurred. BRVO and CRAO can occur in the same eye in CSS. In the presence of systemic signs or symptoms, it is important to rule out systemic vasculitis in order to start appropriate immune-modulatory treatment thereby avoiding unnecessary mortality.
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Primary open angle glaucoma (POAG) is a characteristic optic neuropathy which progresses to irreversible vision loss. Few genes have been detected that influence POAG susceptibility and other genes are therefore likely to be involved. We... more
Primary open angle glaucoma (POAG) is a characteristic optic neuropathy which progresses to irreversible vision loss. Few genes have been detected that influence POAG susceptibility and other genes are therefore likely to be involved. We analyzed carefully characterized POAG cases in a genome-wide association study (GWAS). We performed a GWAS in 387 POAG cases using public control data (WTCCC2). We also investigated the quantitative phenotypes, cup:disc ratio (CDR), central corneal thickness (CCT), and intra-ocular pressure (IOP). Promising single nucleotide polymorphisms (SNPs), based on various prioritisation criteria, were genotyped in a cohort of 294 further POAG cases and controls. We found 2 GWAS significant results in the discovery stage for association, one of which which had multiple evidence in the gene 'neural precursor cell expressed, developmentally down-regulated 9' (NEDD9; rs11961171, p=8.55E-13) and the second on chromosome 16 with no supporting evidence. Tak...
Research Interests: Genetics, Human Genetics, Complementary and Alternative Medicine, Molecular, Humans, and 14 moreFemale, Male, Intraocular Pressure, Risk factors, Phenotype, Aged, Great Britain, Middle Aged, Optometry and Ophthalmology, Genotype, Risk Factors, Thioredoxin reductase, Cohort Studies, and Paediatrics and reproductive medicine
To evaluate the efficacy of spectral-domain optical coherence tomography (SD OCT) compared to indocyanine green angiography (ICGA) in detecting idiopathic polypoidal choroidal vasculopathy (PCV) and in differentiating between PCV and... more
To evaluate the efficacy of spectral-domain optical coherence tomography (SD OCT) compared to indocyanine green angiography (ICGA) in detecting idiopathic polypoidal choroidal vasculopathy (PCV) and in differentiating between PCV and occult choroidal neovascularization (CNV). Retrospective observational case-control study. SD OCTs of 51 eyes of 44 consecutive patients who presented with 1 or more pigment epithelial detachments (PEDs) attributable to either PCV or occult CNV were retrospectively reviewed by a grader masked to the final diagnosis. A qualitative analysis based on the following tomographic findings was performed: sharp PED peak, PED notch, hyporeflective lumen within hyperreflective lesions adherent to retinal pigment epithelium. The diagnosis based on SD OCT alone was compared with the final diagnosis made using ICGA and fluorescein angiography. Sensitivity and specificity were calculated. Patients with classic CNV and central serous chorioretinopathy were excluded. Among 51 eyes of 44 patients, 37 had an ICGA-confirmed diagnosis of PCV and 14 had occult CNV. SD OCT based on the features above detected 35 of 37 true-positive PCV lesions but missed 2 ICGA-confirmed lesions (false negatives). SD OCT correctly excluded 13 of 14 non-PCV lesions but misidentified 1 PCV lesion (false positive). These data showed a sensitivity of 94.6% and a specificity of 92.9% for the above SD OCT features in identifying PCV lesions. SD OCT based on the features above allowed for good detection of PCV and differentiation between PCV and occult CNV in this selected clinic population. A careful qualitative analysis of the tomographic findings in patients presenting with PEDs may allow ophthalmologists to distinguish between PCV and occult CNV, decreasing the need for ICGA and the risks related to this procedure.
Research Interests: Optical coherence tomography, Retinal Pigment Epithelium, Humans, Female, Polyps, and 13 moreMale, Clinical Sciences, Aged, Middle Aged, Optometry and Ophthalmology, Public health systems and services research, Retrospective Studies, Sensitivity and Specificity, Predictive value of tests, Case Control Studies, Choroid, Indocyanine green, and Choroidal Neovascularization
Research Interests: Ophthalmology, Adolescent, Humans, Child, Female, and 13 moreMale, Risk factors, Clinical Sciences, Aged, Optometry and Ophthalmology, Adult, Public health systems and services research, Retrospective Studies, Risk Factors, Pseudotumor Cerebri, Papilledema, Magnetic resonance angiography, and Idiopathic Intracranial Hypertension
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Research Interests: Immunology, Clinical Trial, Retinal Pigment Epithelium, Photodynamic Therapy, Humans, and 11 moreRetinal detachment, Clinical Sciences, Eye, Optometry and Ophthalmology, Photochemotherapy, Diode Laser, Laser Treatment, Retinal Diseases, Glucocorticoids, Light Coagulation, and Adrenal cortex hormones
Research Interests: Algorithms, Cornea, Multidisciplinary, Macular Degeneration, Biological Sciences, and 15 moreHumans, Glaucoma, Diabetic Retinopathy, Female, Male, Biomed, Age related macular degeneration, Clinical Sciences, Aged, Middle Aged, Image Enhancement, Observer Variation, Adult, Macular edema, and Medical and Health Sciences
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