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retinal arterial tortuosity
ICD-10 Codes
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Description
Retinal Arterial Tortuosity: A Clinical Sign
Retinal arterial tortuosity refers to an abnormal twisting or turning of the retinal arteries, which can be observed through fundoscopic examination. This clinical sign can manifest in various degrees and is often associated with systemic and ocular conditions.
Characteristics
- Abnormal curvature of the retinal arteries
- Twisting or turning of the vessels
- Can involve first-order, second-order, or third-order retinal arteries
Associations
- Retinal arterial tortuosity has been linked to various conditions, including:
- Blood pressure and arterial stiffness [12]
- Neuroretinal rim thinning [14]
- Ischemic heart disease mortality [15]
- Retinopathy of prematurity [16]
- Higher glycosylated hemoglobin (HbA1c) level in type 1 diabetes [17]
Diagnosis
- Typically made by an ophthalmologist through fundoscopic examination
- A general evaluation is indicated due to the possibility of other conditions, such as kidney disease [13]
Citations:
[1] - Refers to the abnormal twisting or turning of the retinal arteries. [2] - Describes the risk and frequency of retinal hemorrhages not directly correlating with degree of arteriolar tortuosity. [3] - Mentions that retinal vascular tortuosity is related to blood pressure, neuroretinal rim thinning, ischemic heart disease mortality, retinopathy of prematurity, higher glycosylated hemoglobin (HbA1c) level in type 1 diabetes, and gestational diabetes. [4] - Defines retinal vascular tortuosity as the integral of the curvature square along the path of the vessel, normalized by the total path length. [5] - Describes a rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries. [6] - Mentions that increased tortuosity of the retinal blood vessels is usually evident in the first decade of life and may become more apparent with aging. [7] - Refers to the possibility of other conditions, such as kidney disease, being associated with retinal vascular pattern.
Additional Characteristics
- Retinopathy of prematurity
- Abnormal twisting or turning of the retinal arteries
- Can manifest in various degrees and is often associated with systemic and ocular conditions
- Abnormal curvature of the retinal arteries
- Twisting or turning of the vessels
- Linked to blood pressure and arterial stiffness
- Neuroretinal rim thinning
- Ischemic heart disease mortality
- Higher glycosylated hemoglobin (HbA1c) level in type 1 diabetes
Signs and Symptoms
Retinal arterial tortuosity, also known as familial retinal arteriolar tortuosity, is a rare genetic disorder characterized by the abnormal twisting or turning of the retinal blood vessels. The signs and symptoms of this condition can vary in severity and may include:
- Abnormal retinal vessel morphology: The most distinctive feature of retinal arterial tortuosity is the presence of abnormally twisted or turned retinal arteries, which can be observed through fundoscopic examination [10].
- Retinal hemorrhage: Patients with retinal arterial tortuosity may experience transient vision loss due to retinal hemorrhages following physical exertion or minor stress [6][7].
- Variable degrees of transient vision loss: The disease may be asymptomatic, but most patients present variable degrees of transient vision loss due to retinal hemorrhage [6].
- Retinal vascular abnormalities: Other signs of hypertensive retinopathy include constricted and tortuous arterioles, retinal hemorrhage, hard exudates, cotton wool spots, retinal edema, and papilledema [11].
It's worth noting that the diagnosis of retinal arterial tortuosity is usually made by an ophthalmologist through a fundoscopic examination. However, a general evaluation is indicated because of the possibility that other conditions such as kidney disease may also be present [14].
Additional Symptoms
- Retinal hemorrhage
- Abnormal retinal vessel morphology
- Variable degrees of transient vision loss
- Retinal vascular abnormalities
Diagnostic Tests
Diagnostic Tests for Retinal Arterial Tortuosity
Retinal arterial tortuosity can be diagnosed through various tests that allow ophthalmologists to visualize the blood vessels in the retina. Here are some diagnostic tests used to detect and measure retinal arterial tortuosity:
- Fundoscopic examination: A fundoscopic examination is a non-invasive test where an ophthalmologist uses an ophthalmoscope to examine the retina and observe any abnormalities, including tortuous blood vessels [2].
- Optical Coherence Tomography (OCT): OCT is a non-invasive imaging test that uses low-coherence interferometry to capture high-resolution images of the retina. It can help detect retinal vascular changes, including tortuosity [5][9].
- Swept-Source Optical Coherence Tomography Angiography (SS-OCTA): SS-OCTA is a type of OCT that uses swept-source technology to capture detailed images of the retinal vasculature. It can help quantify vessel tortuosity in patients with certain conditions [5][9].
- Nailfold capillaroscopy: This test involves examining the capillaries on the nail bed using a specialized microscope. It can show similar features to retinal vessels, including tortuosity, and is used to diagnose certain systemic diseases [8].
These diagnostic tests can help ophthalmologists detect and measure retinal arterial tortuosity, which can be an important indicator of various ocular and systemic conditions.
References:
[2] - This work aims to advance in the standardization of the retinal vascular tortuosity as a clinical biomarker with diagnostic potential... (1) [5] - by SS Saraf · 2019 · Cited by 20 — We implement swept-source optical coherence tomography angiography (SS-OCTA) to quantify vessel tortuosity in patients with FRAT. (5) [8] - by F Gekeler · 2006 · Cited by 25 — Nailfold capillaroscopy demonstrated the identical features of capillary loops as retinal vessels in showing a high degree of tortuosity without any other... (8) [9] - by SS Saraf · 2019 · Cited by 20 — We implement swept-source optical coherence tomography angiography (SS-OCTA) to quantify vessel tortuosity in patients with FRAT. (9)
Treatment
Retinal arterial tortuosity, also known as familial retinal arteriolar tortuosity (FRAT), is a rare disorder characterized by progressive and pronounced tortuosity of the arterioles in the macular and peripapillary area. While there are no specific treatments for this condition, various medications have been explored to manage its symptoms.
- Vasodilators: Some studies have suggested that vasodilators such as intravenous glyceryl trinitrate (GTN) or isosorbide dinitrate may help alleviate symptoms of retinal arterial tortuosity by improving blood flow and reducing vascular resistance [4].
- Anti-VEGF therapy: Although primarily used to treat retinal vascular diseases like diabetic macular edema, anti-VEGF therapy has been explored as a potential treatment for retinal arterial tortuosity. However, its effectiveness in this condition is still unclear [8].
- Laser therapy: In some cases, laser therapy may be considered to manage symptoms of retinal arterial tortuosity, particularly if there are associated retinal edema and hard exudates [9].
It's essential to note that these treatments are not specifically approved for retinal arterial tortuosity, and their effectiveness in managing this condition is still being researched. A comprehensive treatment plan should be developed under the guidance of an ophthalmologist or a medical specialist.
References: [4] by S Cugati · 2013 · Cited by 195 [8] Dec 3, 2020 [9] by S HANDA · 2008
Recommended Medications
- Laser therapy
- Vasodilators (glyceryl trinitrate or isosorbide dinitrate)
- Anti-VEGF therapy
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Retinal arterial tortuosity, also known as retinal vascular tortuosity, can be a symptom of various underlying conditions. Here are some differential diagnoses to consider:
- Hypertensive retinopathy: This is the most common cause of retinal arterial tortuosity, where high blood pressure causes damage to the small arteries in the retina [3].
- Retinal vein occlusion: This condition occurs when a thrombosis exists in one or more retinal veins, which can lead to dilated and tortuous retinal venules [7].
- Coats' disease: A rare eye disorder that affects young males, characterized by abnormal development of blood vessels in the retina, which can cause retinal arterial tortuosity [8].
- Leber's aneurysms: These are abnormal dilations of the retinal arteries, which can be associated with Coats' disease and other conditions.
- Macroglobulinemia, cryoglobulinemia, leukemia, and polycythemia vera are also associated with venous and arterial tortuosity [5].
- Neurofibromatosis, congenital retinal venous tortuosity, Fabry disease, and branch retinal vein occlusion can also cause retinal vascular tortuosity [6].
It's essential to note that a comprehensive eye examination, including imaging studies and laboratory tests, is necessary to determine the underlying cause of retinal arterial tortuosity.
References: [3] Ghoraba HH. Different diseases associated with retinal vascular tortuosity. 2023. [5] Sears J. Other syndromes associated with venous and arterial tortuosity. 1998. [6] Patel PS. Other causes of retinal vascular tortuosity. 2020. [7] Jan 15, 2017 — Impending retinal vein occlusion. [8] Retinal vein occlusion (RVO) is a differential diagnosis for Coats' disease due to retinal arterial Leber's aneurysms.
Additional Differential Diagnoses
- Branch retinal vein occlusion
- Leber's aneurysms
- Congenital retinal venous tortuosity
- neurofibromatosis 1
- hypertensive retinopathy
- leukemia
- Fabry disease
- retinal vein occlusion
- cryoglobulinemia
- Coats disease
- polycythemia vera
- macroglobulinemia
Additional Information
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- An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34.
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