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JAMA 2022 07;328(1):57-68

School of Medicine, Division of Hematology and Oncology, University of California Davis, Sacramento.

Importance: Sickle cell disease (SCD) is an inherited disorder of hemoglobin, characterized by formation of long chains of hemoglobin when deoxygenated within capillary beds, resulting in sickle-shaped red blood cells, progressive multiorgan damage, and increased mortality. An estimated 300 000 infants are born annually worldwide with SCD. Most individuals with SCD live in sub-Saharan Africa, India, the Mediterranean, and Middle East; approximately 100 000 individuals with SCD live in the US. Read More

J Fr Ophtalmol 2022 06 6;45(6):677-679. Epub 2022 May 6.

Service Rétine, Centre François-Xavier-Michelet, Groupe hospitalier Pellegrin, CHU de Bordeaux, place Amélie Raba-Léon, 33000 Bordeaux, France.

Am J Med 2022 Aug 22;135(8):e279-e287. Epub 2022 Apr 22.

Program for Personalized Cancer Care, Evanston, Ill; Department of Surgery, NorthShore University HealthSystem, Evanston, Ill; Department of Surgery, University of Chicago Pritzker School of Medicine, Ill. Electronic address:

Background: Sickle cell trait is typically considered benign. Although evidence remains inconsistent, recent studies suggest that it is associated with several common diseases. We systematically assessed associations of sickle cell trait with reported diseases in a large population-based cohort. Read More

Eye (Lond) 2022 Jun 28;36(6):1138-1139. Epub 2022 Jan 28.

Royal Victoria Infirmary, Newcastle Hospitals NHS Foundation Trust', Newcastle Upon Tyne, UK.

Medicine (Baltimore) 2021 Dec;100(51):e28355

Pediatrics Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.

Abstract: Sickle cell disease (SCD) is a disorder that causes red blood cells to become sticky and rigid. Sickle cells can block blood flow in small blood vessels depriving the eye of oxygen and cause damage. This is called sickle retinopathy that can progress to severe proliferative sickle cell retinopathy, bleeding into the eye, detachment of the retina or even loss of vision. Read More

Am J Ophthalmol 2022 04 12;236:241-248. Epub 2021 Nov 12.

From the Retina Division, Wilmer Eye Institute (I.A., T.P., M.F.G., T.Y.A.L., J.T., A.W.S.), Baltimore, Maryland, USA. Electronic address:

Purpose: To determine the feasibility and accuracy of nonmydriatic ultra-widefield (UWF) fundus photographs taken in a hematology clinic setting for screening of sickle cell retinopathy (SCR) DESIGN: Prospective cohort study.

Methods: This single-site study took place at the Johns Hopkins Sickle Cell Center for Adults and the Wilmer Eye Institute. The study population was 90 eyes of 46 consecutive adults with sickle cell disease (SCD). Read More

Ophthalmic Surg Lasers Imaging Retina 2021 11 1;52(11):620-622. Epub 2021 Nov 1.

Background And Objectives: To investigate the prevalence of areas of dark without pressure (DWOP) and angioid streaks (AS) in patients with sickle cell disease (SCD).

Patients And Methods: This was a consecutive series of 77 adults with SCD.

Results: DWOP appeared as multiple patches in 35 of the affected eyes and as a single lesion in 3 eyes. Read More

Turk J Pediatr 2021 ;63(5):875-883

Departments of Pediatric Hematology, Dicle University Faculty of Medicine, Diyarbakır.

Background: The aim of this study is to examine the thickness of choroidal, macular and peripapillary retinal nerve fiber layer by spectral-domain optical coherence tomography (SD-OCT) in pediatric patients with sickle cell anemia (SCA) without retinopathy.

Methods: A total of 75 children (30 SCA patients (Group 1) and 45 healthy individuals (Group 2) were included in the study. Macular (central, superior, inferior, nasal, temporal), choroidal (subfoveal, at nasal distances from the central fovea of 1000 μm [N1], 2000 μm [N2], 3000 μm [N3], at temporal distances from the central fovea of 1000 μm [T1], 2000 μm [T2], 3000 μm [T3]) and RNFL (average, temporal, superotemporal, inferotemporal, nasal, inferonasal and superonasal) measurements were performed by SD-OCT. Read More

Mol Ther 2021 11 1;29(11):3140-3152. Epub 2021 Oct 1.

Stem Cell and Gene Therapy Program, Fred Hutchinson Cancer Research Center, Seattle, WA, USA. Electronic address:

Although genome editing technologies have the potential to revolutionize the way we treat human diseases, barriers to successful clinical implementation remain. Increasingly, preclinical large animal models are being used to overcome these barriers. In particular, the immunogenicity and long-term safety of novel gene editing therapeutics must be evaluated rigorously. Read More

Can J Ophthalmol 2022 08 21;57(4):e119. Epub 2021 Sep 21.

Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ont.. Electronic address:

J Fr Ophtalmol 2021 Oct 25;44(8):1308-1309. Epub 2021 Aug 25.

Service d'ophtalmologie, hôpital intercommunal de Créteil, université Paris Est-Créteil, 40, avenue de Verdun, 94000 Créteil, France.

Hemoglobin 2021 Jul 6;45(4):228-233. Epub 2021 Aug 6.

Department of Hematology and Blood Transfusion, Aminu Kano Teaching Hospital, Kano, Nigeria.

Sickle cell disease is often complicated by retinopathy, which can be proliferative or non proliferative. Proliferative sickle cell retinopathy potentially leads to blindness. There is a paucity of data on sickle cell disease-related retinopathy from Africa, where the disease is most prevalent. Read More

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

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

Ophthalmol Retina 2021 07;5(7):695

Department of Ophthalmology, Université de Paris, AP-HP, Hôpital Lariboisière, Paris, France.

J Neuroophthalmol 2022 03 2;42(1):e434-e436. Epub 2021 Jul 2.

Department of Ophthalmology and Vision Sciences (JMK, TJ-P, EAM), University of Toronto, Toronto, Canada; and Division of Neurology (EAM), Department of Medicine, University of Toronto, Toronto, Canada.

Abstract: A 26-year-old African American man with sickle cell disease noticed blurry vision in both eyes after a recent complicated hospital admission for sickle cell crisis. Anterior and posterior segment examination of each eye was normal, but visual field testing revealed binasal scotomas. Optical coherence tomography of the macula demonstrated severe thinning of the temporal inner retina, suggesting previous bilateral occlusions of terminal retinal arterioles involving the temporal macula, an uncommon complication of sickle cell disease. Read More

J Investig Med High Impact Case Rep 2021 Jan-Dec;9:23247096211028392

Texas Tech University Health Sciences Center El Paso, USA.

Vascular occlusive crisis with a concurrent vision loss on both eyes is one of the most devastating disability for sickle cell disease patients. Reportedly occlusive crisis in the eyes is usually temporary whereas if not appropriately managed can result in permanent vision loss. A carefully managed sickle cell crisis could prevent multiple disabilities including blindness and stroke. Read More

QJM 2021 Dec;114(10):747-748

Department of Ophthalmology, Royal Berkshire Hospital, Berkshire, UK.

J Clin Invest 2021 06;131(12)

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

Therapies targeting VEGF have proven only modestly effective for the treatment of proliferative sickle cell retinopathy (PSR), the leading cause of blindness in patients with sickle cell disease. Here, we shift our attention upstream from the genes that promote retinal neovascularization (NV) to the transcription factors that regulate their expression. We demonstrated increased expression of HIF-1α and HIF-2α in the ischemic inner retina of PSR eyes. Read More

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

Retina 2021 07;41(7):1361-1363

Department of Ophthalmology and Visual Sciences, Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, Iowa.

Eye (Lond) 2021 10 6;35(10):2675-2684. Epub 2021 May 6.

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

Sickle cell retinopathy is often initially asymptomatic even in proliferative stages, but can progress to cause vision loss due to vitreous haemorrhages or tractional retinal detachments. Challenges with access and adherence to screening dilated fundus examinations, particularly in medically underserved areas where the burden of sickle cell disease is highest, highlight the need for novel approaches to screening for patients with vision-threatening sickle cell retinopathy. This article reviews the existing literature on and suggests future research directions for coupling artificial intelligence with multimodal retinal imaging to expand access to automated, accurate, imaging-based screening for sickle cell retinopathy. Read More

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

Pediatr Blood Cancer 2021 07 31;68(7):e29028. Epub 2021 Mar 31.

Center for Cancer and Blood Disorders, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA.

Purpose: This study aimed to confirm the correlation between sickle cell disease (SCD) genotype and retinal damage identified by spectral-domain optical coherence tomography (SD-OCT), and examine a potential link between hypoxic ischemic injury in the retina and brain.

Methods: In this prospective, observational case series, 117 patients (56 males) aged 5-20 years with SCD (36 SC, 68 SS, eight Sβ+ thalassemia, five Sβ0 thalassemia) underwent ophthalmologic examination including funduscopy and SD-OCT imaging. Comparison of SCD genotypes and association between ocular findings and cerebrovascular disease (CVD) in subjects with SS/Sβ0 genotype were investigated. Read More

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

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

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

Ophthalmologe 2021 Oct 27;118(10):1013-1023. Epub 2021 Jan 27.

Klinik und Poliklinik für Augenheilkunde, Universitätsklinikum Regensburg, Franz-Josef-Strauß-Allee 11, 93053, Regensburg, Deutschland.

Background: Sickle cell disease (SCD) is a hereditary hemoglobinopathy, which leads to microcirculatory disturbances of various organ systems through recurrent vaso-occlusive episodes, with a possibly fatal outcome. Sickle cell retinopathy (SCR) is the best described ocular manifestation of SCD. Irrespective of the presence of peripheral SCR, sickle cell maculopathy (SCM) can occur early in the course of the disease. Read More

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

Ophthalmol Retina 2021 11 19;5(11):1146-1155. Epub 2021 Jan 19.

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

Purpose: To investigate the structural and microvascular changes in the retina and choriocapillaris in patients with sickle cell disease (SCD) demonstrating acute vision loss and acute macular neuroretinopathy (AMN) or paracentral acute middle maculopathy (PAMM) using multimodal imaging including OCT and OCT angiography (OCTA).

Design: Retrospective case series.

Participants: Four hemoglobin SS (HbSS) or hemoglobin SC (HbSC) patients who demonstrated vision loss attributed to AMN (n = 2) or PAMM (n = 2). Read More

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