Leber congenital amaurosis 1 (Q27677616)
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Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has material basis in mutation in the GUCY2D gene on chromosome 17p13
- LCA1
- amaurosis congenita of Leber I
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Leber congenital amaurosis 1 |
Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has material basis in mutation in the GUCY2D gene on chromosome 17p13 |
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