Bietti crystalline corneoretinal dystrophy
http://purl.obolibrary.org/obo/MONDO_0008865
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. [ Orphanet:41751 ]
Term info
- Orphanet:41751 (OMIM:210370)
- OMIM:210370 (Orphanet:41751/e)
- MESH:C535440 (Orphanet:41751/e)
- UMLS:C1859486 (Orphanet:41751)
- DOID:0050664 (MONDO:equivalentTo)
- NCIT:C179299 (MONDO:equivalentTo)
- GARD:0010050 (MONDO:equivalentTo)
- SCTID:312927001 (MONDO:equivalentTo)
gard_rare, ordo_disease
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.
http://purl.obolibrary.org/obo/NCIT_C179299, http://purl.obolibrary.org/obo/DOID_0050664, http://identifiers.org/mesh/C535440, http://purl.obolibrary.org/obo/Orphanet_41751, https://omim.org/entry/210370, http://identifiers.org/snomedct/312927001, http://linkedlifedata.com/resource/umls/id/C1859486
Bietti crystalline retinopathy, BCD, Bietti crystalline corneoretinal dystrophy, Bietti's crystalline dystrophy
Bietti tapetoretinal Degeneration with marginal corneal dystrophy, Bietti crystalline dystrophy
MONDO:0008865
https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy