Цистиноз

Fructosemia, congenital violation of amino acid metabolism resulting in abnormally high content of cystine in the blood, kidneys and lymphatic system. In the organs and tissues the accumulation of cystine and deposition of its crystals, including in the cornea, and sometimes in the anterior chamber, the iris, fundus, and even in the optic nerve. It may lead, including to the loss of transparent crystals.

The disease occurs due to mutations of the CTNS gene and occurs in about one case in 200 000 births (most common in Brittany and France, where it reaches frequencies of about 1:26 000).

Translated by «Yandex.Translator»