Management of sickle cell retinopathy free download as powerpoint presentation. Sickle cell retinopathy an overview sciencedirect topics. Scribd is the worlds largest social reading and publishing site. Sickle retinopathy results from aggregation of abnormal hemoglobin in the red blood cells. Expert panel report epr, 2014 is to synthesize the available scientific evidence on sickle cell disease and offer guidance to busy primary care clinicians. At full dose, the medicine should slightly reduce the number of blood cells in the body.
Sickle retinopathy results from aggregation of abnormal hemoglobin in the red blood cells in the retinal microcirculation, leading to reduced. Sickle cell disease scd occurs in 1 of every 500 african american births and 1 of every 36,000 hispanic american births. Pdf risk factors for proliferative sickle retinopathy. Visual loss was strongly associated with proliferative sickle retinopathy p retinal manifestations of sicklecell disease can be non pro li ferative yielding diagnostic value or proliferative. Sickle cell retinopathy is best seen by fluorescein angiography fig. Sickle cell retinopathy is a potentially blinding condition that affects young people in the working age group. Among the possible ocular manifestations, the most representative is retinopathy, which can lead to blindness if left untreated. Diagnosis and management of ocular complications of sickle he. Retinal occlusion as an advanced complication of sickle. Aug 16, 2002 evidencebased management of sickle cell disease. Although the clinical appearance does not completely resemble the typical sickle cell retinopathy picture, the left eye findings likely represent an early glimpse at the evolution of the disease. Management of proliferative sickle cell retinopathy american. Apr 01, 2021 sickle cell retinopathy scr has been well described, with proliferative sickle cell retinopathy psr being a major sightthreatening complication. In children with sickle cell disease it takes several months to reach the full dose of hydroxyurea.
Ophthalmologic manifestations of sickle cell disease scd. Patterns of visual loss in untreated sickle cell retinopathy. Chapter 6 blood transfusion in the management of sickle cell disease. New ways to detect pediatric sickle cell retinopathy. Sickle cell retinopathy sickle cell disease scd, first described by james herrick in 1910, is the most common inherited blood disorder in the united states and worldwide. Avascular necrosis avn childrens hospital st louis, heartland scd network sickle cell disease. The anatomical changes in the retina are highly associated with the disease progression. It is more common in patients with the hemoglobin sc type of sickle cell disease. The expression of the adhesion molecules icam1, vcam1, and pselectin, and the distribution and number of polymorphonuclear leucocytes pmns were investigated in sickle cell retinopathy scr and compared to the normal retina. Sickle cell retinopathy is present in some patients with sickle cell disease.
In sickle cell retinopathy, blockage of blood vessels in the retina and choroid pronounced coreoid results in abnormal blood vessel g rowth and thinning of the retina. Sickle cell disease published online ahead of print january 31, 2017. Case report management of proliferative sickle cell. Macular holes associated with proliferative sickle cell. The repetition of these hemorrhagic phenomena leads to rupture, retinal detachment and vision loss stage v, the final stage of sickle cell proliferative retinopathy. Summary of the 2014 nhlbi guidelines to manage sickle cell. These physical changes and their consequences can impair vision. Because these deformed rbc are more rigid than healthy cells,they may become impacted in and obstruct. In sickle cell retinopathy, blockage of blood vessels in the retina and choroid pronounced coreoid results. Sickle cell retinopathy is a major ocular complication of the sickle cell disease scd which causes permanent loss of vision. Ocular complications of systemic disease final handout. Longitudinal assessment of retinal thinning in adults with. Carotid occlusive disease ocular ischemic syndrome 4.
Sep 30, 2020 the ocular manifestations of sickle cell disease scd result from vascular occlusion, which may occur in the conjunctiva, iris, retina, and choroid. Case 3, a 36yearold black manwith hb ss, was seenin july 1974for sickle cell retinopathy. Proliferative sickle cell retinopathy psr is a visionthreatening complication of sickle cell disease scd. A major factor contributing to the formation of the holes was macular stretching, caused by simultaneous nasal traction from epipapillary fibroglial tissue and temporal traction from peripheral. Chapter 5 hydroxyurea therapy in the management of sickle cell disease.
Sickle cell retinopathy the american society of retina. Sickle retinopathy results from aggregation of abnormal. Computeraided classification of sickle cell retinopathy. Association between sickle cell trait and the prevalence. Consequently, patients with scd suffer from microvascular occlusions in various parts of their body, including the retina. Feb 18, 1987 proliferative sickle retinopathy psr was documented by fluorescein angiography in five of the males 8% and two of the females 3% under age 20. Progression was associated with age, extent of sickle cell retinopathy and presence of retinopathy in the contralateral eye. Sickle cell retinopathy the american society of retina specialists. One of the most common is sickle cell anemia, which, due to sickling of erythrocytes, causes vasoocclusive phenomena. We report on four patients with sickle cell hemoglobin sc disease in whom macular holes developed. Request pdf sickle cell retinopathy sickle cell disease refers to a group of inherited hemoglobinopathies characterized by abnormal hemoglobin genes. Ischemic events in the retina stimulate angiogenesis, resulting in retinal neovascularization.
When sickle cells travel through small blood vessels, they can get stuck and occlude blood flow and thus prevent oxygen from reaching vital organs. Sickle cell disease scd is usually believed to be associated with african ancestry and malariaendemic areas. If there is a history of scd in the siblings than parents should be referred to geneticist. Sickle cell disease treatment demonstration project. Postmortem ocular tissue was obtained from five subjects 16, 21, 28, 40, and 41 years of age with sickle haemoglobinopathies and from one control. Management of sickle cell retinopathy sickle cell disease. Stem cell transplantation and gene therapy are potentially curative treatments, which may prevent retinopathy. Expert panel report, 2014 ix foreword the purpose of the evidence based management of sickle cell disease. The jamaican cohort study showed that the prevalence of sickle cell retinopathy was 43% in sc and 14% in ss by age 20. Sickle cell retinopathy sickle cell retinopathy is present in some patients with sickle cell disease. Bedwetting nocturnal enuresis childrens hospital st louis, heartland scd network sickle cell disease. Proliferative sickle cell retinopathy was categorized into 1 of 3 states psrfree or regressed psr, unilateral psr, bilateral ophthalmic methods psr, and the probability of patient movement between these states was calculated using transition frequencies10 separately assessment included visual acuity va, fundus examination for each genotype. Management of proliferative sickle cell retinopathy.
Further study is needed to determine if recent progress in the understanding of the pathophysiology and diagnosis of sickle retinopathy may. In sickle cell retinopathy, blockage of blood vessels in the retina and choroid pronounced coreoid results in abnormal blood vessel growth and thinning of the retina. There is lack of evidence regarding the optimal management of sickle retinopathy. Patterns of visual loss in untreated sickle cell retinopathy nature. Although proliferative sickle retinopathy psr is common and may progress. However both scd and sct may lead to retinopathy and proliferative retinopathy.
Sickle cell retinopathy retina ophthalmic pearls p roliferative sickle cell retinop athy psr is a visionthreaten ing complication of sickle cell disease scd. More subtle signs of sickle cell retinopathy are optic nerve head vascular changes, vascular tortuosity, macular changes e. Sickle cell retinopathy scr is the most representative ophthalmologic complication of sickle cell disease scd, a hemoglobinopathy. Sickle cell disease and trait need genetic counselling premarital and preconception. It is considered as the major ocular manifestation of scd to produce visual impairment and blindness 5. It has been suggested by some authors that patients with sickle. Retinal occlusion as an advanced complication of sickle cell. Sickle cell retinopathy scr results from the microvascular occlusions induced by sickle shaped erythrocytes in the retina 4. The study was designed in autumn 2008 and conducted from february 2, 2009, to july 3, 2020. Thepatient had had a few sickle cell crises, urinary tract infection, renal vein thrombosis, and upper respiratory tract infection. Neutrophils and leucocyte adhesion molecules in sickle cell. Sickle cell retinopathy scr is one of the major ocular manifestations of scd. Incidence and natural history of proliferative sickle cell. The dose used in the treatment of sickle cell disease does not cause the usual side effects seen with cancer treatment.
Many children with sickle cell disease have taken hydroxyurea for several years without problems. Sickle cell retinopathy 10 given the patients age, race, medical history, and fa findings, the patient most likely has early sickle cell retinopathy. One type of blood cell that can be reduced is a white blood cell called a neutrophil. Scd is caused by a mutation in the hbb gene, which encodes hemoglobin beta. Central macular thickness in patients with sickle cell. Proliferative sickle cell retinopathy under age 20. 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. Surgical approach to sickle cell retinopathy retina today. A yearly sickle cell retinopathy screening exam with a retina specialist is recommended starting at age 10 for those diagnosed with sickle cell 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. Sickle cell retinopathy is a condition that can cause permanent damage to the eyes.
It does not cause hair loss, vomiting, weakness, or loss of appetite. Objectivesto measure central macular thickness in jordanian patients with sickle cell disease who did not have retinopathy and compare the findings with age and sexmatched controls using spectral. When bleeding reaches the visual axis, it causes scotomas and amaurosis. Proliferative sickle cell retinop athy psr is a visionthreaten ing complication of. The mutations most frequently associated with ophthalmic. The earlier onset and greater frequency of proliferative retinopathy in hb sc disease and sickle cell.
Sickle cell trait sct is the heterozygous form that is generally considered relatively benign. Sensitivity and specificity of ultrawidefield fundus. However, it can befound in any patient with sickle cell disease. The underlying systemic and ocular manifestations of scd are a result of vasoocclusive ischemia due to the blocking of blood vessels by sickle shaped erythrocytes. Quantitative characteristics of sickle cell retinopathy in. Other manifestations of sickle cell retinopathy include iridescent spots, retinal neovascularization, and retinal detachment. Pdf incidence and natural history of proliferative sickle. Retinopathy childrens hospital st louis, heartland scd network.
Fluorescein angiography is used to highlight blood vessels in the retina, particularly abnormal sea fanshaped vessels, and areas without blood flow. Association between sickle cell trait and the prevalence and. Introduction sickle cell disease scd is a complex multisystemic disease caused by a mutation in the globin gene resulting in the production of an abnormal hemoglobin variant that tends to polymerize and. 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. Sickle cell retinopathy scr is the most representative ophthalmologic complication of sickle cell disease scd. Dec 15, 2015 screen children with sickle cell anemia annually with transcranial doppler ultrasonography from two until at least 16 years of age. In nepal, scd is commonly found in the midwestern and farwestern region in. Participants with sickle cell retinopathy sickle cell group were matched by age and race with participants without sickle cell retinopathy control group. Pdf hemoglobinopathies are a group of hereditary diseases that cause. Participants received annual spectraldomain oct and clinical examinations.
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