Combined hamartoma of the retina and retinal pigment epithelium

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Synonyms: CHR-RPE | Combined hamartoma of the retina and RPE

A rare benign eye tumor characterized by the presence of glial cells vascular tissue and sheets of pigment epithelial cells lacking the distribution and organization of the normal retina and retinal pigment epithelium. The lesion is most commonly found unilaterally as a slightly elevated mass in a peripapillary location but can also occur in the macula or the retinal periphery. It is sometimes associated with neurofibromatosis type 1 or 2 nevoid basal cell carcinoma syndrome or branchio-oculo-facial syndrome. Patients may be asymptomatic or present with progressive loss of vision.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Combined hamartoma of the retina and retinal pigment epithelium?

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Advocacy Organizations

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

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