However, it can befound in any patient with sickle cell disease. Visionthreatening complications of sickle cell disease are mainly due to proliferative sickle retinopathy which is characterized by proliferation of new blood vessels. Sickle cell anemia, or sickle cell disease scd, is a genetic disease of the red blood cells rbcs. Jude eye clinic have been treating people with sickle cell disease for many years, and they are familiar with sr. In children with sickle cell anemia sca, screen annually with transcranial doppler ultrasound tcd according. Deoxygenated hbs polymerizes into rigid fibers resulting in a physically deformed sickled rbc. Learn vocabulary, terms, and more with flashcards, games, and other study tools. A retrospective analysis of 258 children with scd identified 54 children with sickle cell retinopathy. An eye on sickle cell retinopathy pubmed central pmc.
Paracentral occlusive retinopathy is an uncommon manifestation of sickle cell disease. Sickle cell retinopathy an overview sciencedirect topics. Mar 20, 2019 a retrospective analysis of 258 children with scd identified 54 children with sickle cell retinopathy. It is more common in patients with the hemoglobin sc type of sickle cell disease. Consensuspanel expertise screening for risk of stroke using neuroimaging 1. Van meurs jc 1991 relationship between peripheral vascular closure and proliferative retinopathy in sickle cell disease. Patients with proliferative sickle cell retinopathy develop pathologic.
Sickle cell hemoglobinopathies all share the common feature of an abnormal globin chain, which leads to sickling of erythrocytes and obstruction of the microcirculation. Ophthalmologic manifestations of sickle cell disease scd. Pain crisis, male gender, and splenic sequestration were clinical risk factors that were associated with sickle cell retinopathy in these pediatric patients. 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 is believed to be vasoocclusion of peripheral arterioles of the retina leading to retinal hypoxia, ischemia, and infarction. Retinopathy associated with sicklec and sickle cell disease is well described. Lim,2 dingcai cao,2,3 and xincheng yao 1,2,4 1department of bioengineering, university of illinois at chicago, chicago, il 60607, usa 2department of ophthalmology and visual sciences, university of illinois at chicago, chicago, il. Prevalence and onset of pediatric sickle cell retinopathy. An 18 yearold africanamerican male with known sickle cell disease is.
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. The macular vessel density, specifically in the deep retinal plexus, as seen on. Because of the mutation, the hemoglobin makes polymers in the rbcs, which causes them to become rigid. Widefield imaging of sickle retinopathy international journal of. Management of proliferative sickle cell retinopathy. The objective of this study was to determine immunohistochemically if vascular endothelial growth factor vegf or basic fibroblast growth. Sickle cell retinopathy is a condition that can cause permanent damage to the eyes. If macular ischemia is not reversed, permanent vision loss can result. It consists of two alpha polypeptide chains, each of which pairs with a beta. Aug 12, 2014 sickle cell retinopathy can be classified as nonproliferative or proliferative. The purpose of the current study was to determine associations between retinal blood flow and vessel morphology metrics in sickle cell retinopathy. Cryotherapy of proliferative sickle retinopathy, triple. Sickle cell disease is a disorder that causes red blood cells to become sickled bananashaped, as well as sticky and rigid. The retinal abnormalities in these seven patients were indistinguishable from those seen in patients with clinically significant sickling hemoglobinopathies sickle cell hemoglobin c disease, hemoglobin sthalassemia disease, and sickle cell anemia.
Angiogenic factors in human proliferative sickle cell retinopathy. Relating retinal blood flow and vessel morphology in. Two diseasemodifying therapies, hydroxyurea and longterm blood transfusions, are available but underused. Hemoglobin is an iron containing protein in red blood cells that transports oxygen. To evaluate the sensitivity and specificity of ultrawidefield fundus photography uwffp for the detection and classification of sickle cell retinopathy scr by ophthalmologists with varying degrees of expertise in retinal disease. Retinopathy associated with sickle c and sickle cell disease is well described. Sickling haemoglobinopathies sickling haemoglobinopathies are caused by one, or a combination of abnormal haemoglobins which cause the red blood cell to adopt an anomalous shape under conditions of hypoxia and acidosis. Backgroundaims preretinal neovascular formations called sea fans develop at the border of nonperfused peripheral retina in sickle cell retinopathy. Proliferative sickle cell retinopathy psr is a visionthreatening complication of sickle cell disease scd. Laser therapy for retinopathy in sickle cell disease myint. Other mutations in the beta subunit can result in hemoglobin sc disease hbsc and sickle thaslassemia hbsthal. Pdf hemoglobinopathies are a group of hereditary diseases that cause. A potential limitation of conventional fluorescein angiography is the inability to image the pathology of the far peripheral retina in some eyes with sickle retinopathy. Qualitative changes occur when the number of hemoglobin chains present is normal, but their chemical composition is changed.
Sickle cell disease includes a group of inherited haemoglobinopathies affecting multiple organs including the eyes. Ischemic events in the retina stimulate angiogenesis, resulting in retinal neovascularization. Other common but relatively more benign conditions of scd include hbsc and. The prevalence, incidence, and risk factors associated with proliferative sickle retinopathy psr were investigated in 786 patients with homozygous sickle cell ss disease and 533 patients with sickle cell haemoglobin c sc disease. Genetic and systemic risk factors of sickle cell retinopathy and proliferative sickle cell retinopathy malaria is or was highly prevalent in areas where scd is common, and it is believed that heterozygosity for the sickle cell allele may confer malarial resistance and hence, a selective advantage 26. Seven patients had sickle cell trait hemoglobin as and vasoproliferative retinopathy. 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. Goldberg9 defined stage iv as vitreous hemorrhage usually due to proliferative retinopathy, and stage v as any retinal detachment. Sickle cell disease scd is a chronic genetic disorder caused by a mutation that results in the production of abnormal hemoglobin hb, referred to as sickle hemoglobin hbs, in red blood cells rbcs. Normally, rbcs are shaped like discs, which gives them the flexibility to travel through even.
Clinical markers of sch severity assessed were not associated with scr and are not necessary for screening guidelines. Further, the incidence of proliferative sickle cell retinopathy in sickle cell disease and thalassemia is higher than in sickle cell anemia. Sickle trait and haemoglobin c trait are generally considered benign conditions, with infrequent systemic. 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.
The lists above are guidelines and do not include all symptoms. Expert panel report epr, 2014 is to synthesize the available scientific evidence on sickle cell disease and offer guidance to busy primary care clinicians. Angiogenic factors in human proliferative 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. The incidence of sickle cell trait sc and hemoglobin c trait are 8% and 2%, respectively, and uncommonly have ocular sequelae. Adhesion of normal and sickle erythrocytes to endothelial monolayer cultures. Some people with the disease develop ocular manifestations due to vasoocclusion.
Detection and monitoring of sickle cell retinopathy using ultra widefield color photography and fluorescein angiography. In children with sickle cell anemia sca, screen annually with transcranial doppler ultrasound tcd according to methods employed in the stop studies, beginning at age. Hemoglobin and the rbcs are important for carrying oxygen throughout the body in blood vessels. The objective of this study was to determine immunohistochemically if vascular endothelial growth factor vegf or basic. 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. In the nonproliferative form the most common clinical findings are salmon patch hemorrhages, iridescent spots and black sunbursts, which can be observed in the peripheral retina. Quantitative characteristics of sickle cell retinopathy in. Laser therapy for retinopathy in sickle cell disease. Sep 26, 2019 the purpose of the current study was to determine associations between retinal blood flow and vessel morphology metrics in sickle cell retinopathy scr and healthy normal control nc subjects. Sickle cell retinopathy and hemoglobinopathies springerlink.
Further, the incidence of proliferative sicklecell retinopathy in sicklecell disease and thalassemia is higher than in sicklecell anemia. Sickle cell retinopathy results from peripheral retinal microvasculature occlusion 4. The retinal manifestations of sicklecell disease can be nonproliferative yielding diagnostic value or proliferative. The retinal abnormalities in these seven patients were indistinguishable from those seen in patients with clinically significant sickling hemoglobinopathies sickle cellhemoglobin c disease, hemoglobin sthalassemia disease, and sickle cell anemia. An 18yearold africanamerican male with known sickle cell disease is. May 15, 2014 further, the incidence of proliferative sicklecell retinopathy in sicklecell disease and thalassemia is higher than in sicklecell anemia. Refer people with suspected retinopathy to a retinal specialist. Reversal of paracentral occlusive retinopathy in a case of.
Quantifying areas of vascular leakage in sickle cell. The ocular manifestations of sickle cell disease scd result from vascular occlusion, which may occur in the conjunctiva, iris, retina, and choroid. Expert panel report, 2014 ix foreword the purpose of the evidence based management of sickle cell disease. Goldberg fromthe sickle cell eye clinic, university ofillinois eyeandearinfirmary, chicago summary completeclosure ofretinal neovascularisation dueto proliferative sickle cell retinopathy. Angiogenic factors which could contribute to their development, however, have not been examined previously. Most patients experience both chronic and episodic pain, and acute pain crisis is the most common reason for emergency department use by patients with. Kay thi myint, soumendra sahoo, aung win thein, soe moe, han ni. Sickle retinopathy can progress to severe proliferative sickle cell retinopathy psr. Relating retinal blood flow and vessel morphology in sickle. British journalofophthalmology, 1979, 63, 97101 cryotherapy ofproliferative sickle retinopathy, ii. Scd is caused by a mutation in the hbb gene, which encodes hemoglobin beta. Sickle cell retinopathy can be classified as nonproliferative or proliferative. Main clinical complications in patients with sickle cell anemia.
1356 1591 476 171 696 1160 1205 960 895 456 1340 871 1594 1359 1642 542 447 850 360 920 12 1414 792 482 664 1047 1591 977 241 1540 555 149 997 508 1292 1076 297 540 103 1204 1267 1180 1058