Bietti crystalline corneoretinal dystrophy
Bietti crystalline corneoretinal dystrophy
Definition
Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.
Also known as BCD, Bietti crystalline corneoretinal dystrophy, Bietti crystalline retinopathy — per MONDO
Also identified as
- DOID 0050664 per MONDO
- MESH C535440 per MONDO
- NCIT C179299 per MONDO
- OMIM 210370 per MONDO
- Orphanet 41751 per MONDO
- SCTID 312927001 per MONDO
- UMLS C1859486 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 |
| Retina | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Retina | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |