Sudden onset blindness in sickle cell disease due to retinal artery occlusion

Liem, Robert I.; Calamaras, Diane; Chhabra, Manpreet S.; Files, Beatrice; Minniti, Caterina P.; Thompson, Alexis A.

doi:10.1002/pbc.21152

Cited by 32 publications

(24 citation statements)

References 18 publications

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“…We also observe links to precipitated conditions, such as blindness, which can result from retinal artery occlusion or by classic sickle retinopathy (23), and short stature (24), which is known to occur in children with sickle cell anemia. Interestingly, the degree is not correlated with the number of sources for a given disease (not shown); most diseases come from a single source, whereas some arise from as many as 12 sources (Figure 5B).…”

Section: Malacards Disease Listmentioning

confidence: 80%

MalaCards: an integrated compendium for diseases and their annotation

et al. 2013

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Comprehensive disease classification, integration and annotation are crucial for biomedical discovery. At present, disease compilation is incomplete, heterogeneous and often lacking systematic inquiry mechanisms. We introduce MalaCards, an integrated database of human maladies and their annotations, modeled on the architecture and strategy of the GeneCards database of human genes. MalaCards mines and merges 44 data sources to generate a computerized card for each of 16 919 human diseases. Each MalaCard contains disease-specific prioritized annotations, as well as inter-disease connections, empowered by the GeneCards relational database, its searches and GeneDecks set analyses. First, we generate a disease list from 15 ranked sources, using disease-name unification heuristics. Next, we use four schemes to populate MalaCards sections: (i) directly interrogating disease resources, to establish integrated disease names, synonyms, summaries, drugs/therapeutics, clinical features, genetic tests and anatomical context; (ii) searching GeneCards for related publications, and for associated genes with corresponding relevance scores; (iii) analyzing disease-associated gene sets in GeneDecks to yield affiliated pathways, phenotypes, compounds and GO terms, sorted by a composite relevance score and presented with GeneCards links; and (iv) searching within MalaCards itself, e.g. for additional related diseases and anatomical context. The latter forms the basis for the construction of a disease network, based on shared MalaCards annotations, embodying associations based on etiology, clinical features and clinical conditions. This broadly disposed network has a power-law degree distribution, suggesting that this might be an inherent property of such networks. Work in progress includes hierarchical malady classification, ontological mapping and disease set analyses, striving to make MalaCards an even more effective tool for biomedical research.Database URL: http://www.malacards.org/

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Section: Malacards Disease Listmentioning

confidence: 80%

MalaCards: an integrated compendium for diseases and their annotation

et al. 2013

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“…[29] It is imperative to do a hemoglobin electrophoresis in all young patients with RAO. Though sickle cell trait is a benign condition numerous case reports and studies show that under stress, hypoxia due to trauma or concomitant systemic disease it becomes a pathological factor.…”

Section: Discussionmentioning

confidence: 99%

Retinal arterial occlusions in the young: Systemic associations in Indian population

Ratra

Dhupper

2012

Indian J Ophthalmol

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Purpose:To determine the systemic associations in retinal arterial occlusions (RAO) in young Indian individuals less than 40 years of age.Materials and Methods:Case records of 32 patients (35 eyes) of less than 40 years, with non-traumatic RAO were analysed. All patients underwent detailed ophthalmic and systemic evaluation including hemogram, lipid profile, coagulation profile, vasculitis screening, carotid Doppler, echocardiogram.Results:In the study 21 were males and 11 were females. The age ranged from 11-39 years (Mean 27.6 ± 8.43). Nine (28%) patients were below 20 years of age. Among 35 eyes, 28 (80%) had central retinal artery occlusion (CRAO), three (8.6%) had branch retinal artery occlusion (BRAO), two (5.7%) each had cilio-retinal (CLAO) and hemi-retinal artery occlusion (HRAO). Vision ranged from no perception of light to 20/20. On systemic evaluation, in 21 (65.6%) patients a hypercoagulable state was responsible for the RAO. Conditions leading to a hypercoagulable state included hyperhomocysteinemia (21.9%), hyperlipidemia (15.6%), anticardiolipin antibody (6.2%), antiphospholipid antibody (6.2%), polycythemia, thrombocytosis, protein S deficiency, use of oral contraceptives and renal disorder (3.1% each). Six (18.7%) patients had cardiac valvular defects. Vasculitis screening was positive in three (9.4%) patients. Two (6.2%) had isolated systemic hypertension. In two (6.2%) patients no abnormality could be detected.Conclusion:The systemic associations of RAOs in the Indian population were distinctly different from those reported in the Western population. Hyperhomocysteinemia was the commonest association found. Whereas associations reported in the Western population such as cardiac abnormalities, coagulation disorders, hemoglobinopathies and oral contraceptive use were uncommon.

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“…Although vaso-occlusive pain episodes, infection and acute chest syndrome have all been described in separate cases to precede the development of retinal artery occlusion in individuals with SCD, the lack of preceding symptoms or concomitant complications is equally common. (22) Acute thrombus formation or embolization is presumed to be the pathophysiologic process responsible for central retinal artery occlusion. In SCD, the eye may be especially susceptible to vaso-occlusion since the retinal vasculature is small in caliber and prone to low oxygen tension, which may increase red blood cell sickling.…”

Section: Discussionmentioning

confidence: 99%

“…Interventions to reduce ocular pressure as well as hyperbaric oxygen or thrombolytic therapy are unproven. Prognosis overall is grim in the general and sickle cell population,(22) in which the majority of affected individuals will have no or only partial recovery of vision.…”

Section: Discussionmentioning

confidence: 99%

Sickle Cell Disease in the Emergency Department: Atypical Complications and Management

Brandow

Liem

2011

Clinical Pediatric Emergency Medicine

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Sickle cell disease is the most common inherited blood disorder in the United States. This disorder of hemoglobin structure leads to a chronic hemolytic anemia and complex chronic disease manifested by sudden, severe, and life-threatening complications. These acute complications can occur in any organ system beginning in early childhood and lasting throughout life. The intermittent nature and acuity of these complications lend the emergency department to be an important site of care. The hallmark of sickle cell disease is the vasoocclusive painful event. Other more “typical” complications include fever, acute chest syndrome, priapism, and ischemic stroke. Children with sickle cell disease can also present with other “atypical” complications that can have devastating consequences if they are unrecognized. Detailed discussion of these “atypical” sickle cell disease complications, organized by organ system involved, will be the focus of this article.

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Sudden onset blindness in sickle cell disease due to retinal artery occlusion

Cited by 32 publications

References 18 publications

MalaCards: an integrated compendium for diseases and their annotation

MalaCards: an integrated compendium for diseases and their annotation

Retinal arterial occlusions in the young: Systemic associations in Indian population

Sickle Cell Disease in the Emergency Department: Atypical Complications and Management

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