Leber congenital amaurosis (LCA) is the most common form of congenital blindness. LCA causes blindness from birth or during the first few months of life. The disorder affects 1 in 30,000 newborns. Mutations in at least 25 different genes, accounting for perhaps 70-80% of LCA cases, have been discovered; see the Table below for a list of the associated genes.[PMID 28689169
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Three patients who have been treated with gene therapy in both eyes have experienced dramatic improvement in their vision. BBC News Science Magazine
A single mutation, rs281865192, accounts for 20% of the LCA cases that are based on mutations in the CEP290 gene.[PMID 16909394]
| Full name of condition | Acronym | Approx. Freq. | OMIM (condition) | MOI | Gene | OMIM (gene) |
|---|---|---|---|---|---|---|
| Leber congenital amaurosis-1 | LCA1 | 10-20% | 204000 | AR | GUCY2D | 600179 |
| Leber congenital amaurosis-2 | LCA2 | 5-10% | 204100 | AR | RPE65 | 180069 |
| Leber congenital amaurosis-3 | LCA3 | 3% | 604232 | AR | SPATA7 | 609868 |
| Leber congenital amaurosis-4 | LCA4 | <5% | 604393 | AR | AIPL1 | 604392 |
| Leber congenital amaurosis-5 | LCA5 | 1-2% | 604537 | AR | LCA5 | 611408 |
| Leber congenital amaurosis-6 | LCA6 | 5% | 613826 | AR | RPGRIP1 | 605446 |
| Leber congenital amaurosis-7 | LCA7 | 1% | 613829 | AD, AR | CRX | 602225 |
| Leber congenital amaurosis-8 | LCA8 | 10% | 613835 | AR | CRB1 | 604210 |
| Leber congenital amaurosis-9 | LCA9 | unknown | 608553 | AR | NMNAT1 | 608700 |
| Leber congenital amaurosis-10 | LCA10 | 15-20% | 611755 | AR | CEP290 | 610142 |
| Leber congenital amaurosis-11 | LCA11 | 5% | 613837 | AD | IMPDH1 | 146690 |
| Leber congenital amaurosis-12 | LCA12 | <1% | 610612 | AR | RD3 | 180040 |
| Leber congenital amaurosis-13 | LCA13 | 10% | 612712 | AD, AR | RDH12 | 608830 |
| Leber congenital amaurosis-14 | LCA14 | <1% | 613341 | AR | LRAT | 604863 |
| Leber congenital amaurosis-15 | LCA15 | <1% | 613843 | AR | TULP1 | 602280 |
| Leber congenital amaurosis-16 | LCA16 | unknown | 614186 | AR | KCNJ13 | 603208 |
| Leber congenital amaurosis-17 | LCA17 | unknown | 615360 | AR | GDF6 | 601147 |
| Leber congenital amaurosis-18 | LCA18 | unknown | 608133 | AD, AR | PRPH2 | 179605 |
