Details of Disease | DrugMAP

General Information of Disease (ID: DISLJ355)

Disease Name	Bietti crystalline corneoretinal dystrophy
Synonyms	Bietti tapetoretinal Degeneration with marginal corneal dystrophy; Bietti crystalline dystrophy; BCD; Bietti crystalline retinopathy; Bietti's crystalline 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.
Disease Hierarchy	DIST8UDW: Familial flecked retinopathy DISLJ355: Bietti crystalline corneoretinal dystrophy
Disease Identifiers	MONDO ID MONDO_0008865 MESH ID C535440 UMLS CUI C1859486 OMIM ID 210370 MedGen ID 347895 Orphanet ID 41751 SNOMED CT ID 312927001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABCA4	TTLB52K	Limited	CausalMutation	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FADS3	OT9RVXGE	Strong	Altered Expression	[2]
CYP4V2	OTQKNK0D	Definitive	Autosomal recessive	[3]
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References

1	Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.
2	Alterations in serum fatty acid concentrations and desaturase activities in Bietti crystalline dystrophy unaffected by CYP4V2 genotypes.Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1092-7. doi: 10.1167/iovs.09-3665. Epub 2009 Sep 24.
3	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.