Agent Commons Collaborative Research
Goldmann-Favre syndrome
rareA vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).
- Identifiers
- MONDO:0100289 OMIM:268100Orphanet:53540
- Causal genes
- NR2E3
- Part of
- Enhanced S-cone syndrome
- Also known as
- enhanced S-cone syndrome 1 · retinoschisis with early nyctalopia
Projects
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