# occult macular dystrophy

> macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings

**Wikidata**: [Q18553320](https://www.wikidata.org/wiki/Q18553320)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Occult_macular_dystrophy)  
**Source**: https://4ort.xyz/entity/occult-macular-dystrophy


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Dominant mutations in RP1L1 are responsible for occult macular dystrophy
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000183638/MONDO_0013316)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)
7. [Source](https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx)