693 results match your criteria Retinopathy Hemoglobinopathies


Hemoglobinopathies: ocular manifestations in children and adolescents.

Ther Adv Ophthalmol 2021 Jan-Dec;13:25158414211022882. Epub 2021 Jun 30.

Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, New York-Presbyterian Hospital, 635 W. 165th St., New York, NY 10032, USA.

Hemoglobinopathies are genetic disorders that lead to abnormal structure of the hemoglobin molecule. Sickle cell disease, the most common inherited blood disorder, is characterized by defective oxygen transport. Almost every part of the eye can be affected by sickle cell disease; however, proliferative sickle cell retinopathy is the primary cause of vision loss, either from vitreous hemorrhage or retinal detachment. Read More

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Iron overload and iron chelating agent exposure in anemia-associated outer retinal degeneration: a case report and review of the literature.

BMC Ophthalmol 2021 Jul 13;21(1):277. Epub 2021 Jul 13.

Department of Ophthalmology, Rigshospitalet, Copenhagen University Hospital, Glostrup, Denmark.

Background: Deferoxamine retinopathy is the informally designated term used to describe a characteristic pattern of outer retinal degeneration in iron-overloaded chronic anemia patients who are treated with deferoxamine. We hypothesize that insufficiently treated iron overloading and not only deferoxamine is the cause of the retinal degeneration. Our case report is based on exposure histories of two anemia patients and literature review. Read More

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Long-Term Effects of Iron Chelating Agents on Ocular Function in Patients with Thalassemia Major.

Clin Ophthalmol 2021 20;15:2099-2109. Epub 2021 May 20.

Head of Regional Reference Centre for Diagnosis and Cure of Hemoglobinopathies, S. Luigi Gonzaga University Hospital, University of Turin, Orbassano (TO), Italy.

Background: The aim of this study is to evaluate eye structures and function in patients receiving iron chelating therapy and to assess whether a correlation exists between the onset of ocular alterations and the intake of iron chelating drugs.

Methods: A prospective cohort study was performed. Eighty-eight patients, composed of children and adults with thalassemia major (TM) who are taking or had taken iron chelating drugs (deferoxamine, deferiprone or deferasirox), have been initially enrolled in the study. Read More

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Central macular thickness in patients with sickle cell disease and no signs of retinopathy: a cross-sectional study of Jordanian patients.

J Int Med Res 2021 Apr;49(4):300060520977387

Special Surgery Department/Ophthalmology Division, School of Medicine, University of Jordan, Amman, Jordan.

Objectives: To measure central macular thickness in Jordanian patients with sickle cell disease who did not have retinopathy and compare the findings with age- and sex-matched controls using spectral domain optical coherence tomography (SDOCT).

Methods: In this cross-sectional study, participants underwent visual acuity testing, slit-lamp bio-microscopy, dilated ophthalmoscopy, and SDOCT imaging to measure central macular thickness. Macular quadrant measurements and thickness difference indexes (TDIs) were compared between groups. Read More

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Longitudinal Assessment of Retinal Thinning in Adults With and Without Sickle Cell Retinopathy Using Spectral-Domain Optical Coherence Tomography.

JAMA Ophthalmol 2021 03;139(3):330-337

Department of Ophthalmology, University of Illinois at Chicago, Chicago.

Importance: Determination of retinal thinning rates may help to identify patients who are at risk of progression of sickle cell retinopathy.

Objective: To assess the rates of macular thinning in adults with and without sickle cell retinopathy using spectral-domain optical coherence tomography (OCT) and to identify ocular and systemic risk factors associated with retinal thinning.

Design, Setting, And Participants: This longitudinal prospective case-control study enrolled adult participants from a university-based retina subspecialty clinic between February 11, 2009, and July 3, 2019. Read More

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Sickle Cell Disease and the Eye-Everything Old Is New Again.

Authors:
Adrienne W Scott

JAMA Ophthalmol 2021 03;139(3):337-338

Retina Division, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland.

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Another 'BEE'? - Brain-Eye-Ear (BEE) Disease Secondary to HbSC Disease Masquerading as Multiple Sclerosis.

J Stroke Cerebrovasc Dis 2021 Apr 20;30(4):105618. Epub 2021 Jan 20.

NYU MS Comprehensive Care Center, Department of Neurology, NYU Langone Health, New York, USA.

Recurrent episodes of neurological dysfunction and white matter lesions in a young adult raise suspicion for multiple sclerosis (MS). However, occlusive retinopathy, hearing loss and absence of CSF oligoclonal bands are atypical for MS and should make the clinician consider an alternative diagnosis. We describe a man with hearing loss, visual signs and symptoms, and an accumulating burden of brain lesions, who was treated for a clinical diagnosis of MS for nearly two decades. Read More

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Sickle Cell Maculopathy: Microstructural Analysis Using OCTA and Identification of Genetic, Systemic, and Biological Risk Factors.

Am J Ophthalmol 2021 04 4;224:7-17. Epub 2021 Jan 4.

Service d'ophtalmologie, CHU de Pointe-à-Pitre/Abymes, Pointe-à-Pitre, Guadeloupe, France; Université de Paris, UMR_S1134, BIGR, INSERM, Paris, France; Université des Antilles, UMR_S1134, BIGR, Pointe-à-Pitre, Guadeloupe, France; Université des Antilles, Guadeloupe (FWI), France.

Purpose: To identify genetic, systemic, and biological factors associated with the occurrence of sickle cell maculopathy (SCM). To evaluate microvascular macular alterations using optical coherence tomography angiography (OCTA) in sickle cell disease (SCD).

Design: Cross-sectional study. Read More

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Deep Learning Detection of Sea Fan Neovascularization From Ultra-Widefield Color Fundus Photographs of Patients With Sickle Cell Hemoglobinopathy.

JAMA Ophthalmol 2021 02;139(2):206-213

Retina Division, Wilmer Eye Institute, The Johns Hopkins University School of Medicine and Hospital, Baltimore, Maryland.

Importance: Adherence to screening for vision-threatening proliferative sickle cell retinopathy is limited among patients with sickle cell hemoglobinopathy despite guidelines recommending dilated fundus examinations beginning in childhood. An automated algorithm for detecting sea fan neovascularization from ultra-widefield color fundus photographs could expand access to rapid retinal evaluations to identify patients at risk of vision loss from proliferative sickle cell retinopathy.

Objective: To develop a deep learning system for detecting sea fan neovascularization from ultra-widefield color fundus photographs from patients with sickle cell hemoglobinopathy. Read More

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February 2021

Cell-derived microparticles and sickle cell disease chronic vasculopathy in sub-Saharan Africa: A multinational study.

Br J Haematol 2021 02 29;192(3):634-642. Epub 2020 Nov 29.

Université de Paris, UMR_S1134, Biologie Intégrée du Globule Rouge (BIGR), INSERM, Paris, France.

Although most individuals with sickle cell disease (SCD) live in sub-Saharan Africa, the natural history of the disease on this continent remains largely unknown. Intravascular haemolysis results in activation of circulating blood cells and release of microparticles (MPs) that exert pro-inflammatory effects and contribute to vascular damage. We designed a case-control study nested in the CADRE cohort (Coeur-Artère-DRÉpanocytose, clinical trials. Read More

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February 2021

The eye: A lifesaver! An unusual case of Anemic Retinopathy secondary to Malnutrition and its recovery.

J Family Med Prim Care 2020 Aug 25;9(8):4421-4424. Epub 2020 Aug 25.

Department of Ophthalmology, Tata Main Hospital, Jamshedpur, Jharkhand, India.

A 22-year-old female was admitted with fever,disorientation and sudden decrease of vision in the emergency. Her evaluation showed tachycardia of 100/min and blood pressure of 90/70 with severe pallor. Her fundus examination showed findings of massive preretinal haemorrhage and Roth spots primarily restricted to the posterior pole. Read More

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Polymorphisms in Inflammatory Genes Modulate Clinical Complications in Patients With Sickle Cell Disease.

Front Immunol 2020 4;11:2041. Epub 2020 Sep 4.

INSERM U955, CHU Henri Mondor, Créteil, France.

Sickle cell disease (SCD), the most common monogenic disease worldwide, is marked by a phenotypic variability that is, to date, only partially understood. Because inflammation plays a major role in SCD pathophysiology, we hypothesized that single nucleotide polymorphisms (SNP) in genes encoding functionally important inflammatory proteins might modulate the occurrence of SCD complications. We assessed the association between 20 SNPs in genes encoding Toll-like receptors (TLR), NK cell receptors (NKG), histocompatibility leukocyte antigens (HLA), major histocompatibility complex class I polypeptide-related sequence A (MICA) and cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4), and the occurrence of six SCD clinical complications (stroke, acute chest syndrome (ACS), leg ulcers, cholelithiasis, osteonecrosis, or retinopathy). Read More

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Potential causal role of l-glutamine in sickle cell disease painful crises: A Mendelian randomization analysis.

Blood Cells Mol Dis 2021 02 10;86:102504. Epub 2020 Sep 10.

Montreal Heart Institute, Montréal, Québec, Canada; Faculté de Médecine, Université de Montréal, Montréal, Québec, Canada. Electronic address:

In a recent clinical trial, the metabolite l-glutamine was shown to reduce painful crises in sickle cell disease (SCD) patients. To support this observation and identify other metabolites implicated in SCD clinical heterogeneity, we profiled 129 metabolites in the plasma of 705 SCD patients. We tested correlations between metabolite levels and six SCD-related complications (painful crises, cholecystectomy, retinopathy, leg ulcer, priapism, aseptic necrosis) or estimated glomerular filtration rate (eGFR), and used Mendelian randomization (MR) to assess causality. Read More

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February 2021

Presumed Sickle Cell Retinopathy in an Elderly Woman.

JAMA Ophthalmol 2020 11;138(11):1205-1206

The Retina Service of Wills Eye Hospital, Mid Atlantic Retina, Philadelphia, Pennsylvania.

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November 2020

Gene therapy: An updated overview on the promising success stories.

Malays J Pathol 2020 Aug;42(2):171-185

Universiti Sains Malaysia, School of Medical Sciences, Human Genome Centre, Health Campus, Kubang Kerian, Kelantan, Malaysia.

Gene therapy is a method of treatment of disease aimed at its molecular level. The progress of gene therapy, however, was as promising as it was tardy mainly due to the limitations in the resources and financial part of its development as well as owing to the rarity of most diseases it can offer its benefits to. The methods of gene therapy can vary depending on factors such as the physiology of tissue of interest, affinity of vectors to a certain type of cells, depth and accessibility of the tissue of interest, and size of the gene to be replaced or edited. Read More

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Visual cortex changes in children with sickle cell disease and normal visual acuity: a multimodal magnetic resonance imaging study.

Br J Haematol 2021 01 12;192(1):151-157. Epub 2020 Aug 12.

Department of Child and Woman's Health, Azienda Ospedaliera-Università di Padova, Padova, Italy.

The visual system is primarily affected in sickle cell disease (SCD), and eye examination is recommended starting in late childhood. So far, to our knowledge, all studies have focused on the retina, neglecting the changes that might be present in the cortical portion of the visual system. We performed a multimodal magnetic resonance imaging (MRI) evaluation of the visual cortex in 25 children with SCD (mean age: 12·3 ± 1·9 years) and 31 controls (mean age: 12·7 ± 1·6 years). Read More

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January 2021

Acute compartment syndrome in a patient with sickle cell disease.

Ann R Coll Surg Engl 2020 Nov 11;102(9):e1-e2. Epub 2020 Aug 11.

Bradford Teaching Hospitals NHS Foundation Trust, UK.

Haemoglobin SC (HbSC) disease accounts for 30% of cases of sickle cell disease in the United Kingdom and the United States. Unlike other sickle cell carriers, who are relatively asymptomatic, people with HbSC disease have a combination of genotypes with the potential to cause considerable morbidity due to intracellular water loss. Patients can present with acute pain, acute chest syndrome, proliferative retinopathy, splenic and renal complications, or stroke. Read More

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November 2020

Ocular Manifestations of Sickle Cell Disease in Different Genotypes.

Ophthalmic Epidemiol 2021 Jun 6;28(3):185-190. Epub 2020 Aug 6.

Department of Special Surgery, The University of Jordan Hospital, The University of Jordan, Amman, Jordan.

Background: Sickle cell disease (SCD) is a multisystemic disorder with variable systemic involvement which varies according to genotype. In this study, our aim is to compare ocular complications between HbSS, HbSC, HbS/β+ thalassemia, HbS/β0 thalassemia, SS alpha thalassemia, and S/β0 + alpha thalassemia genotypes.

Methods: Data of patients included in this study was recruited from the Cooperative Study of Sickle Cell Disease (CSSCD). Read More

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Analysis of the foveal microvasculature in sickle cell disease using swept-source optical coherence tomography angiography.

Sci Rep 2020 07 16;10(1):11795. Epub 2020 Jul 16.

Ophthalmology Department, Avicenne Hospital, 125 Rue de Stalingrad, 93000, Bobigny, France.

Ischemic microangiopathy was clearly identified in sickle cell disease (SCD) using fluorescein angiography. A prospective observational clinical study was conducted to assess the foveal avascular zone (FAZ) area and explore perifoveal microvasculature changes in the superficial (SCP) and deep (DCP) capillary plexus using optical coherence tomography angiography (OCTA) and compare two genotypes-HbS/HbS (HbSS) and HbS/HbC (HbSC)-to control. All consecutive patients with electrophoretic confirmation of SCD were included. Read More

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Angioid streaks secondary to homozygous sickle cell disease.

J Fr Ophtalmol 2020 Oct 26;43(8):813-815. Epub 2020 Jun 26.

Mohammed V University, Department of Ophthalmology, Mohammed V Military Training Hospital, Rabat, Morocco.

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October 2020

Interocular asymmetry of foveal avascular zone morphology and parafoveal capillary density in sickle cell retinopathy.

PLoS One 2020 10;15(6):e0234151. Epub 2020 Jun 10.

Ophthalmology, New York Eye and Ear Infirmary of Mount Sinai, New York, New York, United States of America.

Objectives: To examine interocular asymmetry of foveal avascular zone (FAZ) and parafoveal capillary density metrics in sickle cell retinopathy (SCR) using optical coherence tomography angiography (OCT-A).

Methods: This cross-sectional, retrospective study evaluated SCR patients and unaffected controls who underwent 3x3mm macular OCT-A imaging using a spectral domain-OCT system. FAZ (area, perimeter, and acircularity index) and parafoveal capillary density metrics were computed for both eyes of each participant. Read More

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Quantifying Areas of Vascular Leakage in Sickle Cell Retinopathy Using Standard and Widefield Fluorescein Angiography.

Ophthalmic Surg Lasers Imaging Retina 2020 03;51(3):153-158

Background And Objective: To evaluate neovascular surface area change in sickle cell retinopathy following scatter photocoagulation treatment in wide- and standard-field fluorescein angiography (FA) scans using ImageJ software.

Patients And Methods: Images of 11 patients with wide- or standard-field FA scans pre- and post-treatment for sickle cell retinopathy were evaluated retrospectively by two graders using ImageJ. Graders traced lesions in the late arteriovenous phase and calculated the lesion area and intensity relative to the optic disc. Read More

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Sight threatening vitreous haemorrhage and retinal detachment in a patient with sickle cell disease.

Pan Afr Med J 2020 2;35. Epub 2020 Jan 2.

Department of Paediatrics and Adolescent Health, Faculty of Medicine, University of Botswana, Botswana.

We report a case of sight threatening vitreous haemorrhage and retinal detachment as complication of sickle cell disease (SCD). A 35 years old female Nigerian patient had presented to ophthalmology clinic of Princess Marina Hospital, Botswana, with two weeks history of poor vision in the left eye. The loss of vision was due to vitreous haemorrhage and retinal detachment which was confirmed by direct and indirect ophthalmoscopy and B-Scan ultrasound. Read More

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[Sickle cell retinopathy in children: Report of 42 cases].

J Fr Ophtalmol 2020 Apr 21;43(4):319-323. Epub 2020 Feb 21.

Service d'ophtalmologie, CHU La Rabta, 1091 Tunis, Tunisie.

We aimed to describe the epidemiological, etiological and clinical features, treatment and clinical course of sickle cell retinopathy in children and to determine the risk factors for serious involvement.

Methods: This was a retrospective study including all children diagnosed with sickle cell retinopathy. Epidemiological, clinical and therapeutic characteristics, as well as clinical course, were analysed retrospectively by chart review. Read More

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Ocular Manifestations of Sickle Cell Disease: Signs, Symptoms and Complications.

Ophthalmic Epidemiol 2020 08 3;27(4):259-264. Epub 2020 Feb 3.

Department of Urology, Jordanian Royal Medical Services , Amman, Jordan.

Background: Sickle cell disease is an inherited hematological disorder that can affect any organ in the body including the eyes (1-6). Previous studies on ocular manifestations of sickle cell disease generally included samples of less than 100 patients. In this study, we aim to assess the frequency of different ocular signs, symptoms and complications among sickle cell disease patients. Read More

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Optical coherence tomography angiography findings in young β-thalassemia patients.

Eur J Ophthalmol 2020 May 5;30(3):600-607. Epub 2020 Jan 5.

Department of Ophthalmology, Bursa City Hospital, Bursa, Turkey.

Purpose: The purpose was to evaluate retinal vascular parameters by optical coherence tomography angiography in β-thalassemia major patients.

Methods: Thirty-three patients with β-thalassemia major (study group) and 29 healthy children (control group) were enrolled in the study. All subjects underwent a complete ocular examination. Read More

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Evaluation of Ocular Complications by Using Optical Coherence Tomography in Children With Sickle Cell Disease Eye Findings in Children With Sickle Cell Disease.

J Pediatr Hematol Oncol 2020 03;42(2):92-99

Division of Pediatric Hematology, Faculty of Medicine, Mersin University, Mersin, Turkey.

Objective: The aim of this study was to compare optical coherence tomography (OCT) findings in pediatric patients with sickle cell disease (SCD) and healthy individuals and to investigate associations between these data and the patients' systemic findings.

Materials And Methods: The study included 108 eyes of 54 patients with SCD with no visual symptoms and a control group consisting of 110 eyes of 55 healthy subjects with no systemic or ocular pathology. After best-corrected visual acuity assessment, the study participants underwent a complete ophthalmologic examination including intraocular pressure. Read More

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[Role of OCT-angiography in the management of sickle cell retinopathy].

J Fr Ophtalmol 2020 Jan 9;43(1):7-17. Epub 2019 Dec 9.

Service d'ophtalmologie, CHU Bretonneau, 2, boulevard Tonnellé, 37044 Tours cedex, France. Electronic address:

Introduction: Sickle cell retinopathy is the main ophthalmologic complication of sickle cell syndrome. Optical coherence tomography (OCT) and optical coherence tomography-angiography (OCT-A) permit demonstration of central retinal involvement. The goal of this study is to determine whether central retinal involvement is predictive of peripheral retinal ischemia. Read More

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January 2020