Two Iranian patients presented in this study was suffering from cystinosis diagnosed based on their clinical symptoms and laboratory tests. The variations c.257_258delCT and c.323delA in the CTNS gene found in them are frameshifts and truncating mutations that affect product function and result in the signs and symptoms of cystinosis.

Anophthalmia AO and microphthalmia MO have both heritable and environmental causes. The proband described in this study was a 32-year-old symptomatic The detected homozygous canonical splice site variant in the TENM3 gene has not been reported up to now for its pathogenicity and can be considered as a novel mutation.