Confirmation of the MIR204 n.37C>T heterozygous variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma

Four members of a three-generation family with early-onset chorioretinal dystrophy were shown to be heterozygous carriers of the n.37C>T in MIR204 . The identification of this previously reported pathogenic variant confirms the existence of a distinct clinical entity caused by a sequence change in MIR204 . The chorioretinal dystrophy was variably associated with iris coloboma, congenital glaucoma, and premature cataracts extending the phenotypic range of the condition. In silico analysis of the n.37C>T variant revealed 713 novel targets. Additionally, family members were shown to be affected by albinism resulting from biallelic pathogenic OCA2 variants. ### Competing Interest Statement The authors have declared no competing interest. ### Funding Statement This publication was supported by MH CZ-DRO-VFN64165, NU20-07-00182, and by national funds from the Ministry of Education, Youth and Sports under the European Joint Program for Rare Diseases (Solve-RET 8F20004 No. 825575). PL and LD were also supported by UNCE/MED/007 and JJ by SVV 26367/2017. TB was supported by the Czech Science Foundation (GA21-08182S). ### Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes The details of the IRB/oversight body that provided approval or exemption for the research described are given below: The study followed the tenets of the Declaration of Helsinki and was approved by the Ethical review board of General University Hospital in Prague (reference number 412/20 S-IV). All investigated subjects or their legal representatives provided informed consent prior to the inclusion into the study. I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines and uploaded the relevant EQUATOR Network research reporting checklist(s) and other pertinent material as supplementary files, if applicable. Yes All data produced in the present study are available upon reasonable request to the authors.