| ACHM | Achromatopsia |
| AF | Autofluorescence |
| BCVA | Best corrected visual acuity |
| CRT | Central retinal thickness |
| ERG | Electroretinogram |
| FAF | Fundus autofluorescence |
| HGMD | Human Gene Mutation Database |
| LOVD | Leiden Open Variation Database |
| MP | Microperimentry |
| MS | Macular sensitivity |
| NGS | Next generation sequencing |
| OCT | Optical coherence tomography |
| RPE | Retinal pigment epithelium |
| SNV | Single nucleotide variants |
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