RCBTB1 and retinitis pigmentosa: However, another refutation study identified biallelic mutations in RCBTB1 in an isolated patient with retinitis pigmentosa (RP, MIM 268000), and heterozygous truncated variants were distributed in different eye disease phenotypes but were not enriched in FEVR, emphasizing that it was not related to specific eye disease phenotypes (Yang et al., 2021).