Each person carries more than 30,000 genes, among which there is an estimated defect in approximately seven of them. Cystinosis is known as a recessive genetic disease because parents do not exhibit symptoms but they each carry the same genetic defect for Cystinosis.
Each time two carriers of this gene of have a child together there is a 25% risk of having a child with Cystinosis. The risk is the same for both boys and girls and unaffected siblings of a child with Cystinosis have a 66% risk of being a carrier of the gene.
The incidence of Cystinosis is estimated to be 1 case per 100,000 – 200,000 live births.