Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN; OMIM #604168) is a unique syndrome, observed only in the Roma population, caused by a single nucleotide substitution in intron 6 of the C-terminal domain (CTD) phosphatase subunit 1 (CTDP1) gene [11, 12]. The gene discussed is CTDP1; the disease is early-onset non-syndromic cataract.