Paula and Bobby
Parents of Lillie
Acute exudative polymorphous vitelliform maculopathy
What is Acute exudative polymorphous vitelliform maculopathy?
Acute exudative polymorphous vitelliform maculopathy is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
.There is no evidence, as yet, that this condition is genetically determined, but few patients have been reported to date. Gass et al., (1988) described the first cases. Onset was acute, with headache, followed by visual loss. Multiple curvilinear or oval, yellow-white lesions were found at the level of the reinal pigment epithelium (RPE), around the disk and the macula. In addition there was bilateral serous macular detachment. The vision then improved and there were polymorphous, subretinal yellowish deposits in the shape of a meniscus below the macula, looking like the lesions seen in Best vitelliform macular dystrophy. Other patients were reported by Chan et al., (2003), and Vianna et al., (2003)
* This information is courtesy of the L M D.
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What gene changes cause Acute exudative polymorphous vitelliform maculopathy?
The syndrome is inherited in the following inheritance pattern/s:
Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.
Sporadic - In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Acute exudative polymorphous vitelliform maculopathy?
The typical symptoms of the syndrome are:
How does someone get tested for Acute exudative polymorphous vitelliform maculopathy?
The initial testing for Acute exudative polymorphous vitelliform maculopathy can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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