Table 1.
Pathogeneses of included ocular diseases. N/A = not available.
| Disease | Frequently reported cause | Origin | Results in | OMIM entry (+hyperlink) |
|---|---|---|---|---|
| Stargardt disease/fundus flavimaculatus |
ATP-binding cassette (ABCA4) gene mutation.12 |
Photoreceptor (PR) discs.13 | Loss of retinal pigment epithelial (RPE), rods, and cones.13 | 248200 |
| Rod-cone/cone-rod dystrophies | ABCA4 gene mutation.14 | PR discs.13 | Loss of RPE and PR.13 | 601777, 600624, 603649, 604116, 600977 |
| Geographic atrophy (GA) | Incompletely understood, advanced stage of age-related macular degeneration (ARMD).15 | RPE, outer neurosensory retina, and the choriocapillaris.16 | Dysfunction RPE, loss of PR.17 | ARMD: 603075 |
| Central areolar choroidal dystrophy (CACD) | Broad variation of mutations in the peripherin/RDS gene.18 | PR outer segments/discs.18 | Loss of PR, RPE, and choriocapillaris.19 | 215500, 613144, 613105 |
| Vitelliform macular dystrophy/Best disease | Bestrophin 1 (BEST1) gene mutation.20 | RPE.20 | RPE atrophy, deposition of fibrillary material beneath RPE.21 | 153700, 153840 |
| Acute zonal outer occult retinopathy (AZOOR) | Not known.22 | PR outer segments.22 | PR outer segment dysfunction.22 | N/A |
| Bull’s-eye maculopathy (BEM) | Prominin-1 (PROM1) gene mutation23, ABCA424, other. | Varies.23 | Varies.23 | 608051 |