Retinal arterial tortuosity
General Information (adopted from Orphanet):
| Synonyms, Signs: |
retinal hemorrhage with vascular tortuosity Retinal arteriolar tortuosity Tortuosity of retinal arteries |
| Number of Symptoms | 5 |
| OrphanetNr: | 75326 |
| OMIM Id: |
180000
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| ICD-10: |
Q14.1 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 100 cases [Orphanet] |
| Inheritance: |
Autosomal dominant Not applicable [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic central nervous system and retinal vascular disease
-Rare genetic disease Rare central nervous system and retinal vascular disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000572) | Visual loss | 272 / 7739 | ||||
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(HPO:0000573) | Retinal hemorrhage | 13 / 7739 | ||||
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(HPO:0001136) | Retinal arteriolar tortuosity | 5 / 7739 | ||||
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(OMIM) | Episodic loss of vision | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Familial retinal arterial tortuosity is characterized by marked tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system. Two-thirds of patients experience variable degrees of symptomatic transient vision loss due to retinal hemorrhage following ... |
| Clinical Description OMIM |
Beyer (1958) described tortuous retinal arteries with foveal hemorrhage in a 43-year-old man and his 17-year-old son. A 12-year-old son showed early changes. Polycythemia was present in the 17-year-old. Werner and Gafner (1961) described tortuous arteries in a ... |