Ornithine aminotransferase deficiency
Ornithine aminotransferase deficiency
Definition
A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract.
Also known as GACR, gyrate atrophy, gyrate atrophy of choroid and retina with or without ornithinemia, HOGA, hyperornithinemia, hyperornithinemia-gyrate atrophy of choroid and retina syndrome, ornithine aminotransferase deficiency — per MONDO
Also identified as
- DOID 1415 per MONDO
- MESH D015799 per MONDO
- NCIT C84744 per MONDO
- OMIM 258870 per MONDO
- Orphanet 414 per MONDO
- UMLS C0018425 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Camera-type eye | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Camera-type eye | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |