Deutsch
IllnessBietti crystalline corneoretinal dystrophy
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Bietti cristal dystrophy
ID
BS1400
Number of genes
1
Accredited laboratory test
Examined sequence length
1,6 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| CYP4V2 | 1578 | NM_207352.4 | AR |
Informations about the disease
Clinical Comment
Tapetoretinal degeneration, 3rd decade, small sparkling crystalline deposits in posterior retina + corneal limbus, sclerosis of choroidal vessels, nightblindness, decreased vision, paracentral scotoma, legal blindness
Synonyms
- Alias: Bietti crystalline dystrophy (CYP4V2)
- Alias: Bietti crystalline retinopathy (CYP4V2)
- Bietti crystalline corneoretinal dystrophy CYP4V2)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined