What is Hyperferritinemia Cataract Syndrome

Hyperferritinemia Cataract Syndrome is a rare genetic disorder characterized by the presence of high levels of ferritin in the blood, leading to the development of cataracts in the eyes. Ferritin is a protein that stores iron in the body, and its excessive accumulation can cause various health problems.

The main symptom of Hyperferritinemia Cataract Syndrome is the early onset of cataracts, typically appearing in childhood or early adulthood. Cataracts cause clouding of the lens in the eye, leading to blurred vision and eventually vision loss if left untreated.

This syndrome is caused by mutations in the ferritin light chain gene (FTL), which disrupts the normal regulation of ferritin levels. The excess ferritin accumulates in the lens of the eye, causing the development of cataracts.

Treatment for Hyperferritinemia Cataract Syndrome primarily involves surgical removal of the cataracts to restore vision. Regular monitoring of ferritin levels is also important to manage iron overload in the body. Genetic counseling may be beneficial for affected individuals and their families to understand the inheritance pattern and potential risks.