has material basis in germline mutation in RCBTB1 reticular dystrophy of the retinal pigment epithelium RCBTB1-related retinopathy https://github.com/monarch-initiative/mondo/issues/5116 https://www.malacards.org/card/retinal_dystrophy_with_or_without_extraocular_anomalies RCBTB1-related retinopathy describes a range of retinal phenotypes caused by bi-allelic variants in the RCBTB1 gene. While extra-ocular phenotypes in addition to retinopathy have been reported in some patients, no clear pattern has been observed. RDEOA MONDO:0014955 UMLS:C4310680 RCBTB1-related retinopathy GARD:0018241 retinal dystrophy with or without extraocular anomalies OMIM:617175 MEDGEN:934647