Appendix 9 of Sun, Mol Vis 2020; 26:588-602.


Appendix 9. Biallelic pathogenic variants in the six genes and their associated phenotypes reported so far.

To access the data, click or select the words “Appendix 9.” Note: ACHM, achromatopsia; COArgD, cone-rod dystrophy; OT, Oligocone trichromacy; LCA, Leber congenital amaurosis; MD, macular degeneration; ArgP, retinitis pigmentosa; CSNB, congenital stationary night blindness; EoHM, early-osnet high myopia; UN: phenotype unclassified.