Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis; Ramsvps
Description
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 (summary by Abu-Safieh et al., 2011).
Genes related to Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis; Ramsvps
- IGFBP7
Clinical Features
Phenotypes and symptoms related to Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis; Ramsvps
- Pica
- Milia
- Dilatation
- Visual loss
- Pulmonic stenosis
- Vasculitis
- Abnormal retinal morphology
- Exudative retinal detachment
- Retinal arterial macroaneurysms
Incidence and onset information
— Not enough data available about incidence and published cases.
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Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis; Ramsvps Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
|
IGFBP7.
By Fulgent Genetics Fulgent Genetics in United States.
IGFBP7
Specificity
100 %
Genes
100 % |
Alternate names
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis; Ramsvps Is also known as ;fram; retinal arterial macroaneurysm and supravalvular pulmonic stenosis.
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