IllnessBradyopsia
Summary
Short information
2 curated single gene sequence analyses according to clinical suspicion of genetically caused bradyopsia
ID
BP0050
Number of genes
2
Accredited laboratory test
Examined sequence length
2,8 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
Informations about the disease
Clinical Comment
Prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity + photophobia
Synonyms
- Alias: Prolonged electroretinal response suppression
- Sympt.: stationary subn. visual acuity, photophobiaX
- Bradyopsia (RGS9, RGS9BP)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
H53.8
Bioinformatics and clinical interpretation
No text defined