Familial retinal arterial macroaneurysm
General Information (adopted from Orphanet):
| Synonyms, Signs: |
RAMSVPS FRAM Retinal arterial macroaneurysm and supravalvular pulmonic stenosis |
| Number of Symptoms | 10 |
| OrphanetNr: | 284247 |
| OMIM Id: |
614224
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| ICD-10: |
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| 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: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic vitreous-retinal disease
-Rare eye disease -Rare genetic disease Rare syndrome with cardiac malformations -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0012231) | Exudative retinal detachment | 3 / 7739 | ||||
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(HPO:0001642) | Pulmonic stenosis | 89 / 7739 | ||||
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(OMIM) | Pulmonic stenosis, supravalvular | 1 / 7739 | ||||
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(OMIM) | Retinal arterial macroaneurysms, multiple, developing at sites of beading | 1 / 7739 | ||||
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(OMIM) | Pigmentary changes, retinal and/or subretinal (in some patients) | 1 / 7739 | ||||
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(OMIM) | Hemorrhage beneath internal limiting membrane due to leaking macroaneurysms | 1 / 7739 | ||||
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(OMIM) | Retinal arterial beading along all 4 retinal arterial trunks | 1 / 7739 | ||||
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(OMIM) | Exudative maculopathy | 1 / 7739 | ||||
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(OMIM) | Vascular sheathing (in some patients) | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Retinal arterial macroaneurysm is an autosomal recessive condition characterized by the bilateral appearance of 'beading' along the major retinal arterial trunks, with the subsequent formation of macroaneurysms. Affected individuals also have supravalvular pulmonic stenosis, often requiring surgical correction ... |
| Clinical Description OMIM |
Dhindsa and Abboud (2002) reported 3 unrelated Saudi Arabian families in which 2 or more sibs displayed multiple retinal arterial macroaneurysms. Age at onset ranged from 3 months to 19 years; some cases were originally diagnosed as 'atypical ... |
| Molecular genetics OMIM |
In 8 consanguineous Saudi Arabian families with retinal arterial macroaneurysm and supravalvular pulmonic stenosis mapping to chromosome 4q, including 2 families reported by Dhindsa and Abboud (2002), Abu-Safieh et al. (2011) analyzed 6 candidate genes and identified homozygosity ... |