Appendix 1 of
Wang, Mol Vis 2025; 31:221-229. Appendix 1 of
Wang, Mol Vis 2025; 31:221-229.
Appendix 1. Clinical and genetic information of the affected patients at the time of inclusion.
To access the data, click or select the words “Appendix 1.” * Novel variants; ** Previously reported by our group; NA: not available; OU: both eyes; OS: left eye; AR: autosomal recessive; AD: autosomal dominant P: pathogenic; LP: likely pathogenic; VUS: variants of uncertain significance; Reference transcript: LSS(NM_002340.6), SREBF1(NM_001005291.3).