Zaćma w galaktozemii

Galactosemia, rare inherited metabolic disease, causes 1–3% of all cases of congenital cataract. Lens opacity occurs even in 68% of patients with classic galactosemia and in almost all galactokinase deficiencies. Decreased enzymatic activity results in overproduction and accumulation of galactitol in eye lens, which leads to lens opacity due to osmotic swelling of lens cells. Such dysfunction of galactose metabolic pathway enzymes can also lead to presenile cataract formation. Early diagnosis and dietary intervention, in most cases, lead to regression or delay of cataract formation. Unfortunately, surgical treatment is needed in some patients, especially those with insufficient dietary compliance.