Paula and Bobby
Parents of Lillie
Acute posterior multifocal placoid pigment epitheliopathy APMPPE
What is Acute posterior multifocal placoid pigment epitheliopathy APMPPE?
Acute posterior multifocal placoid pigment epitheliopathy APMPPE is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Characteristically this is an acute self resolving eye condition of young adults. There may be a prodromal flu-like illness. There may be transient associated hearing loss. Multiple white-yellow lesions form at the level of the retinal pigment epithelium in the post equatorial retina and especially the posterior pole. The lesions resolve over a few weeks or months, but may lead to pigment change. Vision is often, but not invariably, good, but acuity is usually poor in the acute stage. Unilateral cases occur, but fellow eyes often have abnormal choroidal perfusion if not frank lesions.
* This information is courtesy of the L M D.
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What gene changes cause Acute posterior multifocal placoid pigment epitheliopathy APMPPE?
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.
Environment - Environmental causes, or exposure to external environmental factors, can sometimes contribute to the cause of a rare disease.
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 posterior multifocal placoid pigment epitheliopathy APMPPE?
The typical symptoms of the syndrome are:
How does someone get tested for Acute posterior multifocal placoid pigment epitheliopathy APMPPE?
The initial testing for Acute posterior multifocal placoid pigment epitheliopathy APMPPE 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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