Macular dystrophy that is related to a change in a gene.
| Disease | ID | Subtypes | Genes |
|---|---|---|---|
| Familial flecked retinopathy | MONDO:0016420 | 10 | |
| Patterned dystrophy of the retinal pigment epithelium | MONDO:0018973 | 9 | |
| Cone dystrophy | MONDO:0000455 | 7 | |
| Vitelliform macular dystrophy | MONDO:0000390 | 6 | |
| Macular dystrophy, retinal | MONDO:0031166 | 5 | |
| AICA-ribosiduria | MONDO:0012099 | ATIC | |
| EEM syndrome | MONDO:0009155 | CDH3 | |
| Benign concentric annular macular dystrophy | MONDO:0007934 | ||
| Coloboma of macula | MONDO:0007351 | ||
| Coloboma of macula-brachydactyly type B syndrome | MONDO:0007353 | ||
| Macular coloboma-cleft palate-hallux valgus syndrome | MONDO:0009001 | ||
| Macular corneal dystrophy | MONDO:0009020 | CHST6 | |
| Macular dystrophy with or without cone dysfunction | MONDO:0958326 | SAMD7 | |
| Macular dystrophy, X-linked | MONDO:0010646 | ||
| Macular dystrophy, fenestrated sheen type | MONDO:0007936 | ||
| Occult macular dystrophy | MONDO:0013316 | RP1L1 | |
| Renal hypomagnesemia 5 with ocular involvement | MONDO:0009548 | CLDN19 |
Rare disease
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