Sickle cell hemoglobinopathy is a group of genetic diseases that lead to sickle shaped red blood cells. These abnormally shaped cells affect various body systems. Out of many disorders of blood, sickle cell disease alone causes proliferative retinopathy. In contrast, thalassemia major is linked to non-proliferative pigmentary retinopathy where the growth of new blood vessels is obstructed. A theory suggests that breakdown of red blood cell releases free iron from affected hemoglobin. This iron triggers changes in the pigments. The rigid, sickle shaped cells block blood vessels, cause lack of oxygen in tissues and abnormal growth of new blood vessel. If the blocked eye vessels reopen and stabilize, it may result in retinal damage or detachment over time.
Common hemoglobinopathies with potential for mild to severe proliferative retinal findings include homozygous sickle cell disease (SS disease), sickle cell C disease (SC disease), and sickle cell thalassemia disease (S-Thal disease).
Epidemiology
The World Health Organization estimates that many babies are born each year with severe hemoglobinopathies. About 300,000 to 400,000 new babies possess this condition annually. 7% of people worldwide suffer from diosorders of hemoglobin. According to the reports, 0.5% of patients with HbSS and 2.5% of patients sufffering from HbSC disease face proliferative sickle cell retinopathy which is the most threatening eye complication. Multiple studies have found that beta-thalassemia causes eye problems in 41.3% to 85% of cases.
Anatomy
Pathophysiology
In conditions of hypoxia, the polymerization of HbS damage the skeleton and outer layer of red blood cells (RBCs). This causes stiff HbS molecules to stick together, forming the sickle shape linked to sickle cell disease. These sickle shaped RBCs are not flexible, and they move very slowly through tiny blood vessels in the retina and choroid, sticking to the inner lining. Blockages may happen due to inflammatory substances and sticky molecules released from the endothelial lining. Repeated blockages may trigger the release of fibroblast growth factor and vascular endothelial growth factor, causing abnormal blood vessel growth in the retina.
Etiology
Sickle cell disease (SCD) arises from a genetic change in hemoglobin. In this condition, valine replaces glutamic acid at position six on the beta chain, forming sickle hemoglobin (HbS). The primary issue is chronic hemolytic anemia. There are varied forms of SCD namely homozygous (HbSS), heterozygous (HbSC or HbS with beta-thalassemia). Those with HbSC have higher risk of sickle cell retinopathy and vision loss. Individuals with HbSS face greater systemic complications from retinopathy.
Genetics
Prognostic Factors
Maintaining consistent follow-ups with ophthalmologists and internists/hematologists is vital. This improves the prognosis of the disease.
Clinical History
Patients experience different kinds of vision problems. Symptoms range from brief flashes and floaters to a sudden, severe loss of vision. A thorough examination of the family history for SCD is necessary.
Physical Examination
Complete examination of eye: Primary analysis for hyphema should be done. Ensure that intraocular pressure (IOP) is normal. Dilated fundus examination (DFE) using indirect ophthalmoscopy should be carried out. However, if vitreous hemorrhage prevents that, then a B-scan ultrasound can be done instead.
Retinal findings: The posterior part of the eye has four key types of changes. These are changes to the optic nerve head, changes in the macular structure, the nonproliferative retina, and the proliferative retina. Traditionally, these changes are split into two groups namely, proliferative, or non-proliferative. Non proliferative sickle retinopathy (NPSR) has no growth of new blood vessels, unlike PSR.
Optic disc: Blockage of small vessel leads to vascular changes called the disc sign. They appear as dark red spots or clumps. The spots show low glow segments during tests, but blood flow is normal.
Macula: Sickle cell retinopathy, a problem with the peripheral eye, can show up suddenly or progressively. People with sickle cell disease, sickle cell C disease, or sickle cell-thalassemia disease may get changes in the macula, called sickling maculopathy. Up to 30% with sickle cell C disease may experience acute sickling maculopathy. This can lead to lack of blood flow and tissue death in the retina. Chronic sickling maculopathy is more common. Signs include a depressed macula, macular hole, hairpin shaped blood vessels, enlarged arterioles, microaneurysms, and an abnormal foveal avascular zone. These changes are hard to identify and needs a thorough examination.
Nonproliferative changes in retina: There is no need of treatment for sickle retinal changes, and they don’t cause any symptoms. Angioid streaks, salmon patch hemorrhage, black sunburst, and vein tortuosity are some common abnormalities. Vascular tortuosity happens due to reduced perfusion and circulation. Salmon patch hemorrhage is an intraretinal hematoma caused by sickled erythrocytes blocking arterioles. Black sunbursts are pigmented chorioretinal scars in the peripheral retina. Secondary changes include atrophy of retinal pigment epithelium, choroidal neovascularization, thickening of the basement membrane of the retina, and macular degeneration.
Proliferative sickle retinopathy: Proliferative sickle retinopathy (PSR) is a retinal disease. It affects the peripheral retina and characterized by growth of new blood vessel due to repeated lack of oxygen. The disease has five stages-
Stage-I: Peripheral arteriolar occlusion
Stage-II: Peripheral arteriovenous anastomoses
Stage-III: Neovascular proliferation (the retinal neovascularization occurs in a shape of sea fan that resembles Gorgonia flabellum, a marine invertebrate)
Stage-IV: Vitreous hemorrhage
Stage-V: Detachment of retina, that may be rhegmatogenous or tractional.
Routine check-ups are needed to identify eye problems early in hemoglobinopathies. For eye issues, treatments like steroid or anti-VEGF injections into the eye, laser therapy, vitrectomy surgery, or extra oxygen may help. Close monitoring is key to see if treatments are working and stop any worsening. Educating patient about eye examination, treatments, and lifestyle changes is vital.
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Administration of non-pharmaceutical agents for the treatment of hemoglobinopathy retinopathy
Hemoglobinopathies can be managed without medicines. Oxygen therapy provides more oxygen to the retina, reducing risk of retinopathy. Transfusions increase hemoglobin levels and stop sickle cell episodes, lowering chances of retinopathy. Staying hydrated is important as dehydration worsens sickling. Lifestyle changes like avoiding smoke can slow down the progression of retinopathy. Nutritional support with vitamins and minerals enhances retinal function.
Administration of pharmaceutical agents for the treatment of hemoglobinopathy retinopathy
Aminocaproic acid inhibits fibrinolysis by inhibiting plasminogen activator substances. But thrombi formed during the treatment are not broken down.
Use of corticosteroids
Prednisolone: this reduces the inflammation through suppression of movement of polymorphonuclear leukocytes and it also reverses the increased capillary permeability
Prednisone: Prednisone acts as an anti-inflammatory agent by reversing the increased capillary permeability.
intervention-with-a-procedure
Laser photocoagulation: This procedure uses laser beams to treat retinal issues. It destroys abnormal blood vessels on the surface of the eye. Rare complications can occur.
Scatter photocoagulation: For treating sea fan lesions, scatter photocoagulation works best. It shrinks abnormal blood vessels growing into the vitreous. Early proliferative changes respond well to scatter.
Feeder vessel photocoagulation: In sickle retinopathy with abnormal growth of blood vessel, laser treatment is used to destroy the new vessels on the retina. But complications can occur, like bleeding under the retina, scarring, vitreous hemorrhage, retinal detachment, etc., may occur. To reduce these problems, the technique now involves two sessions of lower intensity laser burns.
Retinal cryotherapy: Freezing treatment of the retina is effective for areas with poor blood flow, as seen in a study by Hanscom in 1982. It can fully eliminate abnormal vessels without many issues.
Vitrectomy: When vitreous bleeding and retinal detachment do not heal by themselves, eye surgery is required. These conditions can cause serious problems like reduced blood flow to the front of the eye. The vitreous operation makes laser treatment easier by removing tractional forces on the retina.
phases-of-management
Hemoglobinopathies, such as thalassemia or sickle cell illness, can often be spotted through routine eye exams. Blood transfusions and other treatments are preventive steps taken to reduce risks of complications. Checking the progress of the disease and effectiveness of treatment requires regular monitoring. Treatment options include injections into the eye, laser therapy, and vitrectomy surgery. Patient education and support empower patients and families to actively engage in recommended care plans.
Sickle cell hemoglobinopathy is a group of genetic diseases that lead to sickle shaped red blood cells. These abnormally shaped cells affect various body systems. Out of many disorders of blood, sickle cell disease alone causes proliferative retinopathy. In contrast, thalassemia major is linked to non-proliferative pigmentary retinopathy where the growth of new blood vessels is obstructed. A theory suggests that breakdown of red blood cell releases free iron from affected hemoglobin. This iron triggers changes in the pigments. The rigid, sickle shaped cells block blood vessels, cause lack of oxygen in tissues and abnormal growth of new blood vessel. If the blocked eye vessels reopen and stabilize, it may result in retinal damage or detachment over time.
Common hemoglobinopathies with potential for mild to severe proliferative retinal findings include homozygous sickle cell disease (SS disease), sickle cell C disease (SC disease), and sickle cell thalassemia disease (S-Thal disease).
The World Health Organization estimates that many babies are born each year with severe hemoglobinopathies. About 300,000 to 400,000 new babies possess this condition annually. 7% of people worldwide suffer from diosorders of hemoglobin. According to the reports, 0.5% of patients with HbSS and 2.5% of patients sufffering from HbSC disease face proliferative sickle cell retinopathy which is the most threatening eye complication. Multiple studies have found that beta-thalassemia causes eye problems in 41.3% to 85% of cases.
In conditions of hypoxia, the polymerization of HbS damage the skeleton and outer layer of red blood cells (RBCs). This causes stiff HbS molecules to stick together, forming the sickle shape linked to sickle cell disease. These sickle shaped RBCs are not flexible, and they move very slowly through tiny blood vessels in the retina and choroid, sticking to the inner lining. Blockages may happen due to inflammatory substances and sticky molecules released from the endothelial lining. Repeated blockages may trigger the release of fibroblast growth factor and vascular endothelial growth factor, causing abnormal blood vessel growth in the retina.
Sickle cell disease (SCD) arises from a genetic change in hemoglobin. In this condition, valine replaces glutamic acid at position six on the beta chain, forming sickle hemoglobin (HbS). The primary issue is chronic hemolytic anemia. There are varied forms of SCD namely homozygous (HbSS), heterozygous (HbSC or HbS with beta-thalassemia). Those with HbSC have higher risk of sickle cell retinopathy and vision loss. Individuals with HbSS face greater systemic complications from retinopathy.
Maintaining consistent follow-ups with ophthalmologists and internists/hematologists is vital. This improves the prognosis of the disease.
Patients experience different kinds of vision problems. Symptoms range from brief flashes and floaters to a sudden, severe loss of vision. A thorough examination of the family history for SCD is necessary.
Complete examination of eye: Primary analysis for hyphema should be done. Ensure that intraocular pressure (IOP) is normal. Dilated fundus examination (DFE) using indirect ophthalmoscopy should be carried out. However, if vitreous hemorrhage prevents that, then a B-scan ultrasound can be done instead.
Retinal findings: The posterior part of the eye has four key types of changes. These are changes to the optic nerve head, changes in the macular structure, the nonproliferative retina, and the proliferative retina. Traditionally, these changes are split into two groups namely, proliferative, or non-proliferative. Non proliferative sickle retinopathy (NPSR) has no growth of new blood vessels, unlike PSR.
Optic disc: Blockage of small vessel leads to vascular changes called the disc sign. They appear as dark red spots or clumps. The spots show low glow segments during tests, but blood flow is normal.
Macula: Sickle cell retinopathy, a problem with the peripheral eye, can show up suddenly or progressively. People with sickle cell disease, sickle cell C disease, or sickle cell-thalassemia disease may get changes in the macula, called sickling maculopathy. Up to 30% with sickle cell C disease may experience acute sickling maculopathy. This can lead to lack of blood flow and tissue death in the retina. Chronic sickling maculopathy is more common. Signs include a depressed macula, macular hole, hairpin shaped blood vessels, enlarged arterioles, microaneurysms, and an abnormal foveal avascular zone. These changes are hard to identify and needs a thorough examination.
Nonproliferative changes in retina: There is no need of treatment for sickle retinal changes, and they don’t cause any symptoms. Angioid streaks, salmon patch hemorrhage, black sunburst, and vein tortuosity are some common abnormalities. Vascular tortuosity happens due to reduced perfusion and circulation. Salmon patch hemorrhage is an intraretinal hematoma caused by sickled erythrocytes blocking arterioles. Black sunbursts are pigmented chorioretinal scars in the peripheral retina. Secondary changes include atrophy of retinal pigment epithelium, choroidal neovascularization, thickening of the basement membrane of the retina, and macular degeneration.
Proliferative sickle retinopathy: Proliferative sickle retinopathy (PSR) is a retinal disease. It affects the peripheral retina and characterized by growth of new blood vessel due to repeated lack of oxygen. The disease has five stages-
Stage-I: Peripheral arteriolar occlusion
Stage-II: Peripheral arteriovenous anastomoses
Stage-III: Neovascular proliferation (the retinal neovascularization occurs in a shape of sea fan that resembles Gorgonia flabellum, a marine invertebrate)
Stage-IV: Vitreous hemorrhage
Stage-V: Detachment of retina, that may be rhegmatogenous or tractional.
Routine check-ups are needed to identify eye problems early in hemoglobinopathies. For eye issues, treatments like steroid or anti-VEGF injections into the eye, laser therapy, vitrectomy surgery, or extra oxygen may help. Close monitoring is key to see if treatments are working and stop any worsening. Educating patient about eye examination, treatments, and lifestyle changes is vital.
Hematology
Ophthalmology
Hemoglobinopathies can be managed without medicines. Oxygen therapy provides more oxygen to the retina, reducing risk of retinopathy. Transfusions increase hemoglobin levels and stop sickle cell episodes, lowering chances of retinopathy. Staying hydrated is important as dehydration worsens sickling. Lifestyle changes like avoiding smoke can slow down the progression of retinopathy. Nutritional support with vitamins and minerals enhances retinal function.
Aminocaproic acid inhibits fibrinolysis by inhibiting plasminogen activator substances. But thrombi formed during the treatment are not broken down.
Use of corticosteroids
Prednisolone: this reduces the inflammation through suppression of movement of polymorphonuclear leukocytes and it also reverses the increased capillary permeability
Prednisone: Prednisone acts as an anti-inflammatory agent by reversing the increased capillary permeability.
Hematology
Laser photocoagulation: This procedure uses laser beams to treat retinal issues. It destroys abnormal blood vessels on the surface of the eye. Rare complications can occur.
Scatter photocoagulation: For treating sea fan lesions, scatter photocoagulation works best. It shrinks abnormal blood vessels growing into the vitreous. Early proliferative changes respond well to scatter.
Feeder vessel photocoagulation: In sickle retinopathy with abnormal growth of blood vessel, laser treatment is used to destroy the new vessels on the retina. But complications can occur, like bleeding under the retina, scarring, vitreous hemorrhage, retinal detachment, etc., may occur. To reduce these problems, the technique now involves two sessions of lower intensity laser burns.
Retinal cryotherapy: Freezing treatment of the retina is effective for areas with poor blood flow, as seen in a study by Hanscom in 1982. It can fully eliminate abnormal vessels without many issues.
Vitrectomy: When vitreous bleeding and retinal detachment do not heal by themselves, eye surgery is required. These conditions can cause serious problems like reduced blood flow to the front of the eye. The vitreous operation makes laser treatment easier by removing tractional forces on the retina.
Hematology
Ophthalmology
Hemoglobinopathies, such as thalassemia or sickle cell illness, can often be spotted through routine eye exams. Blood transfusions and other treatments are preventive steps taken to reduce risks of complications. Checking the progress of the disease and effectiveness of treatment requires regular monitoring. Treatment options include injections into the eye, laser therapy, and vitrectomy surgery. Patient education and support empower patients and families to actively engage in recommended care plans.
Sickle cell hemoglobinopathy is a group of genetic diseases that lead to sickle shaped red blood cells. These abnormally shaped cells affect various body systems. Out of many disorders of blood, sickle cell disease alone causes proliferative retinopathy. In contrast, thalassemia major is linked to non-proliferative pigmentary retinopathy where the growth of new blood vessels is obstructed. A theory suggests that breakdown of red blood cell releases free iron from affected hemoglobin. This iron triggers changes in the pigments. The rigid, sickle shaped cells block blood vessels, cause lack of oxygen in tissues and abnormal growth of new blood vessel. If the blocked eye vessels reopen and stabilize, it may result in retinal damage or detachment over time.
Common hemoglobinopathies with potential for mild to severe proliferative retinal findings include homozygous sickle cell disease (SS disease), sickle cell C disease (SC disease), and sickle cell thalassemia disease (S-Thal disease).
The World Health Organization estimates that many babies are born each year with severe hemoglobinopathies. About 300,000 to 400,000 new babies possess this condition annually. 7% of people worldwide suffer from diosorders of hemoglobin. According to the reports, 0.5% of patients with HbSS and 2.5% of patients sufffering from HbSC disease face proliferative sickle cell retinopathy which is the most threatening eye complication. Multiple studies have found that beta-thalassemia causes eye problems in 41.3% to 85% of cases.
In conditions of hypoxia, the polymerization of HbS damage the skeleton and outer layer of red blood cells (RBCs). This causes stiff HbS molecules to stick together, forming the sickle shape linked to sickle cell disease. These sickle shaped RBCs are not flexible, and they move very slowly through tiny blood vessels in the retina and choroid, sticking to the inner lining. Blockages may happen due to inflammatory substances and sticky molecules released from the endothelial lining. Repeated blockages may trigger the release of fibroblast growth factor and vascular endothelial growth factor, causing abnormal blood vessel growth in the retina.
Sickle cell disease (SCD) arises from a genetic change in hemoglobin. In this condition, valine replaces glutamic acid at position six on the beta chain, forming sickle hemoglobin (HbS). The primary issue is chronic hemolytic anemia. There are varied forms of SCD namely homozygous (HbSS), heterozygous (HbSC or HbS with beta-thalassemia). Those with HbSC have higher risk of sickle cell retinopathy and vision loss. Individuals with HbSS face greater systemic complications from retinopathy.
Maintaining consistent follow-ups with ophthalmologists and internists/hematologists is vital. This improves the prognosis of the disease.
Patients experience different kinds of vision problems. Symptoms range from brief flashes and floaters to a sudden, severe loss of vision. A thorough examination of the family history for SCD is necessary.
Complete examination of eye: Primary analysis for hyphema should be done. Ensure that intraocular pressure (IOP) is normal. Dilated fundus examination (DFE) using indirect ophthalmoscopy should be carried out. However, if vitreous hemorrhage prevents that, then a B-scan ultrasound can be done instead.
Retinal findings: The posterior part of the eye has four key types of changes. These are changes to the optic nerve head, changes in the macular structure, the nonproliferative retina, and the proliferative retina. Traditionally, these changes are split into two groups namely, proliferative, or non-proliferative. Non proliferative sickle retinopathy (NPSR) has no growth of new blood vessels, unlike PSR.
Optic disc: Blockage of small vessel leads to vascular changes called the disc sign. They appear as dark red spots or clumps. The spots show low glow segments during tests, but blood flow is normal.
Macula: Sickle cell retinopathy, a problem with the peripheral eye, can show up suddenly or progressively. People with sickle cell disease, sickle cell C disease, or sickle cell-thalassemia disease may get changes in the macula, called sickling maculopathy. Up to 30% with sickle cell C disease may experience acute sickling maculopathy. This can lead to lack of blood flow and tissue death in the retina. Chronic sickling maculopathy is more common. Signs include a depressed macula, macular hole, hairpin shaped blood vessels, enlarged arterioles, microaneurysms, and an abnormal foveal avascular zone. These changes are hard to identify and needs a thorough examination.
Nonproliferative changes in retina: There is no need of treatment for sickle retinal changes, and they don’t cause any symptoms. Angioid streaks, salmon patch hemorrhage, black sunburst, and vein tortuosity are some common abnormalities. Vascular tortuosity happens due to reduced perfusion and circulation. Salmon patch hemorrhage is an intraretinal hematoma caused by sickled erythrocytes blocking arterioles. Black sunbursts are pigmented chorioretinal scars in the peripheral retina. Secondary changes include atrophy of retinal pigment epithelium, choroidal neovascularization, thickening of the basement membrane of the retina, and macular degeneration.
Proliferative sickle retinopathy: Proliferative sickle retinopathy (PSR) is a retinal disease. It affects the peripheral retina and characterized by growth of new blood vessel due to repeated lack of oxygen. The disease has five stages-
Stage-I: Peripheral arteriolar occlusion
Stage-II: Peripheral arteriovenous anastomoses
Stage-III: Neovascular proliferation (the retinal neovascularization occurs in a shape of sea fan that resembles Gorgonia flabellum, a marine invertebrate)
Stage-IV: Vitreous hemorrhage
Stage-V: Detachment of retina, that may be rhegmatogenous or tractional.
Routine check-ups are needed to identify eye problems early in hemoglobinopathies. For eye issues, treatments like steroid or anti-VEGF injections into the eye, laser therapy, vitrectomy surgery, or extra oxygen may help. Close monitoring is key to see if treatments are working and stop any worsening. Educating patient about eye examination, treatments, and lifestyle changes is vital.
Hematology
Ophthalmology
Hemoglobinopathies can be managed without medicines. Oxygen therapy provides more oxygen to the retina, reducing risk of retinopathy. Transfusions increase hemoglobin levels and stop sickle cell episodes, lowering chances of retinopathy. Staying hydrated is important as dehydration worsens sickling. Lifestyle changes like avoiding smoke can slow down the progression of retinopathy. Nutritional support with vitamins and minerals enhances retinal function.
Aminocaproic acid inhibits fibrinolysis by inhibiting plasminogen activator substances. But thrombi formed during the treatment are not broken down.
Use of corticosteroids
Prednisolone: this reduces the inflammation through suppression of movement of polymorphonuclear leukocytes and it also reverses the increased capillary permeability
Prednisone: Prednisone acts as an anti-inflammatory agent by reversing the increased capillary permeability.
Hematology
Laser photocoagulation: This procedure uses laser beams to treat retinal issues. It destroys abnormal blood vessels on the surface of the eye. Rare complications can occur.
Scatter photocoagulation: For treating sea fan lesions, scatter photocoagulation works best. It shrinks abnormal blood vessels growing into the vitreous. Early proliferative changes respond well to scatter.
Feeder vessel photocoagulation: In sickle retinopathy with abnormal growth of blood vessel, laser treatment is used to destroy the new vessels on the retina. But complications can occur, like bleeding under the retina, scarring, vitreous hemorrhage, retinal detachment, etc., may occur. To reduce these problems, the technique now involves two sessions of lower intensity laser burns.
Retinal cryotherapy: Freezing treatment of the retina is effective for areas with poor blood flow, as seen in a study by Hanscom in 1982. It can fully eliminate abnormal vessels without many issues.
Vitrectomy: When vitreous bleeding and retinal detachment do not heal by themselves, eye surgery is required. These conditions can cause serious problems like reduced blood flow to the front of the eye. The vitreous operation makes laser treatment easier by removing tractional forces on the retina.
Hematology
Ophthalmology
Hemoglobinopathies, such as thalassemia or sickle cell illness, can often be spotted through routine eye exams. Blood transfusions and other treatments are preventive steps taken to reduce risks of complications. Checking the progress of the disease and effectiveness of treatment requires regular monitoring. Treatment options include injections into the eye, laser therapy, and vitrectomy surgery. Patient education and support empower patients and families to actively engage in recommended care plans.
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