| ACMG | American College of Medical Genetics and Genomics |
| AMD | age-related macular degeneration |
| BCVA | best corrected visual acuity |
| CACD | central areolar choroidal dystrophy |
| CRT | central retinal thickness |
| COD | cone dystrophy |
| CORD | cone-rod dystrophy |
| EZ | ellipsoid zone |
| IRD | inherited retinal disease |
| LOMD | late-onset macular dystrophy |
| LP | likely pathogenic |
| P | pathogenic |
| NGS | next-generation sequencing |
| OCT | optical coherence tomography |
| OD | right eye |
| OS | left eye |
| RCD | rod-cone dystrophy |
| RP | retinitis pigmentosa |
| RPE | retinal pigment epithelium |
| SD | standard deviation |
| VUS | variant of uncertain significance |