Appendix 3 of Tracewska, Mol Vis 2021; 27:457-465.


Appendix 3. Phenotype, genotype and demographic data of the cohort.

To access the data, click or select the words “Appendix 3.” + - wild type, ACHM - achromatopsia, AD - autosomal dominant, AR - autosomal recessive, BEST - bestrophinopathy, CD - cone dystrophy, CHM - choroideremia, CRD - cone-rod dystrophy, CSNB - congenital stationary night blindness, F - female, LCA - Leber congenital amaurosis, M - male, RP - retinitis pigmentosa, STGD - Stargardt disease, VUS - variant of unknown significance, XR - X-linked recessive. 1An additional heterozygous mutation in PROM1 - c.1697dup, p.(Asn566Lysfs*2), was detected in this patient, which may contribute to the phenotype. 2A single heterozygous alteration was detected in this patient, which is most probably a chance finding.