Widefield imaging of sickle retinopathy international journal of. This complication is characterized by the onset of lifethreatening anemia with rapid enlargement of the spleen and high reticulocyte count. Retinopathy in patients with sickle cell trait sciencedirect. Summary of the 2014 nhlbi guidelines to manage sickle cell disease lewis hsu, md, phd, faap1 and aniket saha, md, ms, faap2 1university of illinois, chicago, il. It can cause severe damage to the retina and jeopardize ones sight but with regular checkups and timely treatment the problem may be easily brought under control, which prevents loss of vision in the. Problems in sickle cell disease typically begin around 5 to. Laser therapy for retinopathy in sickle cell disease myint. Oct 08, 2019 the ocular manifestations of sickle cell disease scd result from vascular occlusion, which may occur in the conjunctiva, iris, retina, and choroid. Neglected retinopathy can lead to vitreous hemorrhage, retinal detachment, and blindness.
In scd, the red blood cells become hard and sticky and look like a cshaped farm tool called a sickle. People living with sickle cell disease have a much higher risk of this complication. The most common type is known as sickle cell anaemia sca. Thein3,4 1department of renal medicine, kings college london, 2department of renal medicine, kings college hospital nhs foundation trust, 3department of molecular haematology, kings college london, and 4department of haematological medicine, kings college hospital. Sickle cell research for treatment and cure, nih, nhlbi, dhhs, 2002. Sickle cell patient 36 year old black male diagnosed with sickle cell anemia at age 2 formerly had 1 painful crisis each year, but recently has had 3 4 per year last october, acute chest syndrome. Management and therapy of eye disorders in sickle cell disease. The pleiotropic effects of the gene encoding hbs suggest that, in addition to its sicklecell shape, other factors contribute to sicklecell disease pathobiology2. The incidence of sickle cell trait sc and hemoglobin c trait are 8% and 2%, respectively, and uncommonly have ocular sequelae.
It results in an abnormality in the oxygencarrying protein haemoglobin found in red blood cells. Multimodal uwf imaging is providing practitioners with 1 a powerful screening tool for sickle cell retinopathy and, 2 a comprehensive diagnostic imaging method that can characterize the extent of scr pathology and help assess the risk of progression. These include sickle cell anemia homozygous sickle mutation, sickle beta thalassemia, hemoglobin sc disease, and others. Sickle cell retinopathy focus of expert analysis updating. Surgical approach to sickle cell retinopathy april. Summary of the 2014 evidencebased report by expert panel members abstract importance sickle cell disease scd is a lifethreatening genetic disorder affecting nearly 100 000 individuals in the united states and is associated with many acute and chronic complications requiring immediate medical attention. Jan 29, 2020 splenic sequestration occurs with highest frequency during the first 5 years of life in children with sickle cell anemia. All in all, sickle cell retinopathy is only one of many potential complications of sickle cell disease. Cao j, mathews mk, mcleod d, merges c, hjelmeland l, lutty g. Other mutations in the beta subunit can result in hemoglobin sc disease hbsc and sickle thaslassemia hbsthal.
Jude eye clinic have been treating people with sickle cell disease for many years, and they are familiar with sr. Sickle cell hemoglobin c sc and sickle cell thalassemia sthal, are milder systemic forms in the sickle cell disease spectrum, but have a 33% and 14% incidence of proliferative sickle cell retinopathy, respectively. Proliferative sickle retinopathy more common in hbsc 36% than hbss 12%. Four patients had sickle cellhemoglobin sc disease and 1 had sickle cellbeta thalassemia disease. May 29, 2015 oct imaging and sickle cell retinopathy. May 22, 2000 management and therapy of eye disorders in sickle cell disease detection of eye disease. Sickle cell eye disease 25 mar 2017 by mark petrarca mcoptom this article describes the clinical features of sickle cell disease and outlines the ocular abnormalities associated with this condition. The major features are related to hemolytic anemia and vasoocclusion, which can lead to acute and chronic pain and tissue ischemia or infarction. Pdf an eye on sickle cell retinopathy researchgate. Hemoglobin is an iron containing protein in red blood cells that transports oxygen. Sickle cell disease and sickle cell anaemia sickle cell disease scd is a serious, inherited condition affecting the blood and various organs in the body. In the united states, sickle cell disease affects an estimated 70,000 to 100,000 people, the majority of whom are african. Sickled erythrocytes are not pliable thereby resulting in mechanical occlusion of arterioles.
Although diverse and poorly understood etiologies may lead to insuf. Sickle cell disease scd is a group of inherited red blood cell disorders. Angioid streaks can be observed in association with sickle cellthalassemia disease, sca and scd. Sickle cell nephropathy a practical approach claire c. Kay thi myint, soumendra sahoo, aung win thein, soe moe, han ni.
Stroke and other complications hematology fellows conference july, 2012 john j. Sickle cell retinopathy develops in up to 42% of sickle cell individuals in the second decade of life. Retinopathy and sickle cell vision problems youtube. Cao j, mathews mk, mcleod ds, merges c, hjelmeland lm, lutty ga. Is sickle cell retinopathy dangerous eye disorders and. An eye on sickle cell retinopathy pubmed central pmc.
Management of proliferative sickle cell retinopathy. Retina today surgical approach to sickle cell retinopathy. Although severe vision loss in proliferative sickle cell retinopathy psr is. Sickle cell disease occurs in approximately one out of. Sickle cell disease scd, first described by james herrick in 1910, is the most common inherited blood disorder in the united states and worldwide.
Hemeinduced cell adhesion in the pathogenesis of sickle. To determine the retinal and choroidal thickness in patients with sickle cell disease compared to age, race matched population without sickle cell disease to allow a better understanding of the clinical manifestations of sickle cell retinopathy. This study aimed to determine the prevalence and age of onset of clinically significant retinopathy in such patients, and to recommend a screening strategy for ophthalmologists. Scd is caused by a mutation in the hbb gene, which encodes hemoglobin beta. Healthy red blood cells are round and they move through small blood vessels carrying oxygen to all parts of the body. New ways to detect pediatric sickle cell retinopathy. This promises to improve the detection and management of sickle cell retinopathy. Sickle cell retinopathy an overview sciencedirect topics.
Sickle cell anemia red blood cells with normal hemoglobin red blood cells with sickle cell hemoglobin. Hemeinduced cell adhesion in the pathogenesis of sicklecell. Thein3,4 1department of renal medicine, kings college london, 2department of renal medicine, kings college hospital nhs foundation trust. Management of sickle cell retinopathy sickle cell disease. Rods placed in both arms and legs show video treatment. All states screen newborns for sickle cell disease.
Further, the incidence of proliferative sicklecell retinopathy in sicklecell disease and thalassemia is higher than in sicklecell anemia. Ophthalmologic manifestations of sickle cell disease scd. Sickle cell retinopathy and hemoglobinopathies springerlink. Sickle cell eye disease association of optometrists. Hemoglobin and the rbcs are important for carrying oxygen throughout the body in blood vessels. Patients who suffer from sicklecell disease are at high risk of stroke, brain damage, osteonecrosis, acute chest syndrome, retinopathy and kidney failure1. In between episodes of sickling, people with scd are normally well. Ischemic events in the retina stimulate angiogenesis, resulting in retinal neovascularization. However, at the present time, there are no evidence based guidelines or even. The natural history of sickle cell disease graham r. Patients with sickle cell disease can be afflicted with a multitude of acute and chronic medical issues affecting all major. Summary of the 2014 nhlbi guidelines to manage sickle cell disease lewis hsu, md, phd, faap1 and aniket saha, md. Management of sickle cell retinopathy free download as powerpoint presentation. Proliferative sickle cell retinopathy psr is a visionthreatening complication of sickle cell disease scd.
Sickle retinopathy can progress to severe proliferative sickle cell retinopathy psr. Sickle cell vasoocclusive events can affect every vascular bed in the eye, often with visually devastating consequences in advanced stages of the disease. Because the ocular changes produced by scd can be seen in other diseases, it is important to rule out other causes of occlusion, including central retinal vein occlusion, eales disease, and reti. Voet and voet biochemistry, klatt webpath, stryer biochemistry, goldman cecil textbook of medicine charged objects like to be surrounded by water. Early diagnosis crucial in sickle cell retinopathy. Mar 25, 2017 sickle cell eye disease 25 mar 2017 by mark petrarca mcoptom this article describes the clinical features of sickle cell disease and outlines the ocular abnormalities associated with this condition. Laser therapy for retinopathy in sickle cell disease. Serjeant sickle cell trust jamaica, kingston 6, jamaica correspondence.
A screening strategy for the detection of sickle cell. Proliferative sickle cell retinopathy pscr complications are a major contributor to vision loss, leading to visual impairment in 1020% of affected eyes. Sickle cell disease scd is a group of blood disorders typically inherited from a persons parents. May 15, 2014 spotlight on sickle cell retinopathy a thorough patient history and appropriate laboratory testing are essential to treat and diagnose this hereditary blood disorder. Sickle retinopathy sickle cell disease is caused by a small or point mutation in the hemoglobin molecule that is found in red blood cells rbcs. Sickle cell disease scd, first described by james herrick in 1910, is the most. Arteriolar occlusion is at the core of sickle cell retinopathy as it causes both nonproliferative and proliferative disease.
It affects the red blood cells, causing episodes of sickling, which produce episodes of pain and other symptoms. The ocular manifestations of sickle cell disease scd result from vascular occlusion, which may occur in the conjunctiva, iris, retina, and choroid. Sickle cell disease is caused by a small or point mutation in the hemoglobin molecule that is found in red blood cells rbcs. Sickle cell retinopathy scr is the most representative ophthalmologic complication of sickle cell disease scd, a hemoglobinopathy affecting both adults and children. Retinopathy is damage to your retina which can lead to vision loss and ultimately blindness if left untreated.
Scr presents a wide spectrum of manifestations and may even lead to irreversible vision loss if not properly diagnosed and treated at the earliest. The earlier onset and greater frequency of proliferative retinopathy in hb sc disease and sickle cell. Sickle cell retinopathy is an ocular manifestation of the spectrum of sickle cell disease, an inherited group of hemoglobinopathies with numerous systemic and ocular presentations. Splenic sequestration can occur at any age in individuals with other sickle syndromes. Sickle cell retinopathy, the subject of this study, develops in up to 42% of sickle cell. Cao, j, mathews, mk, mcleod, ds, merges, c, hjelmeland, lm, lutty, ga. All 7 patients with sickle cell trait and vasoproliferative retinopathy documented in their study had evidence of associated systemic diseases such as diabetes, syphilis, tuberculosis, or sarcoidosis. Sickle cell hemoglobinopathies all share the common feature of an abnormal globin chain, which leads to sickling of erythrocytes and obstruction of. Lim discusses how to assess the role of oct imaging in sickle cell retinopathy. Stages 1 and 2 are typically monitored, but treatment should begin when the patient reaches stage 3 and seafan neovascularization occurs. Retinopathy can go undetected for years without an eye exam by a trained eye doctor ophthalmologist.
This leads to a rigid, sicklelike shape under certain circumstances. Pdf hemoglobinopathies are a group of hereditary diseases that cause quantitative or qualitative changes in the shape, function or synthesis. Sickle cells are coated with an excess of immunoglobulins, the fc segment of which is promptly taken. This publication, which was developed by physicians, nurses, psychologists, and social workers who specialize in the care of children and adults with sickle cell disease, describes the current approach to counseling and also to management of many of the medical complications of sickle cell disease. Further, the incidence of proliferative sickle cell retinopathy in sickle cell disease and thalassemia is higher than in sickle cell anemia. Aug 12, 2014 angioid streaks can be observed in association with sickle cellthalassemia disease, sca and scd. Summary of the 2014 nhlbi guidelines to manage sickle cell. How uwf imaging is improving the management of sickle cell. Intravitreal bevacizumab for proliferative sickle retinopathy.
Children with sickle cell hemoglobinopathy are referred routinely to detect retinopathy and thereby prevent visionthreatening complications. Basic pathophysiology and new therapeutic options dimitris loukopoulos, md foundation for biomedical research. Patients with proliferative sickle cell retinopathy develop pathologic retinal. Mar 09, 2015 retinopathy is damage to your retina which can lead to vision loss and ultimately blindness if left untreated. Ophthalmic manifestations common in sicklehemoglobin c disease and sicklethalassemia disease, less common in sickle cell disease, and rare in sickle cell trait. Because of the mutation, the hemoglobin makes polymers in the rbcs, which causes them to become rigid. Kunz mathews m, mcleod ds, merges c et al 2002 neutrophils and. Screening for sickle cell retinopathy to begin at 10 years of age. Sickle cell retinopathy ranges from nonproliferative to proliferative changes, but the major sight. Management and therapy of eye disorders in sickle cell disease detection of eye disease.
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