Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome is a rare form of Gaucher disease. It is sometimes called Gaucher disease type 3C or Gaucher-like disease. A key characteristic of this condition is its impact on the heart, where calcification of cardiac tissues can occur. Additionally, the condition can affect the muscles that control eye movement, which is known as ophthalmoplegia. Because it is a rare variant, the complete picture of its effects is still being understood. People with this condition may experience a mix of symptoms related to both cardiac and eye involvement. More detailed information continues to emerge as research progresses.

People with this condition may have difficulty with eye movement (ophthalmoplegia) and may show signs of heart issues due to calcification. Beyond these, information about other symptoms is limited for this rare condition.

This condition is linked to changes in the GBA1 gene. Variations in this gene are known to be involved in Gaucher disease and may play a role in the features seen in this variant. Information about other risk factors or environmental influences is limited.

Information about treatment options is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.