Deutsch
IllnessNight blindness, congenital stationary; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Night blindness, congenital stationary, comprising 8 and altogether 23 curated genes according to the clinical signs
ID
NP0550
Number of genes
21
Accredited laboratory test
Examined sequence length
28,9 kb (Core-/Core-canditate-Genes)
46,9 kb (Extended panel: incl. additional genes)
46,9 kb (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 | Heredity |
|---|---|---|---|
| CABP4 | 828 | AR | |
| CACNA1F | 5934 | XL | |
| GNAT1 | 1053 | AD, AR | |
| GPR179 | 7104 | AR | |
| GRM6 | 2634 | AR | |
| NYX | 1446 | XLR | |
| PDE6B | 2565 | AD, AR | |
| RHO | 1047 | AD | |
| SLC24A1 | 1281 | n.k. | |
| TRPM1 | 4929 | AR | |
| CACNA2D4 | 3414 | AR | |
| FRMD7 | 2145 | XL | |
| GNB3 | 1023 | AR | |
| GRK1 | 1692 | AR | |
| GUCY2D | 3312 | AD, AR | |
| LRIT3 | 2040 | AR | |
| RBP4 | 606 | AR | |
| RDH5 | 957 | AD, AR | |
| RLBP1 | 954 | AD, AR | |
| RS1 | 675 | XLR | |
| SAG | 1218 | AR |
Informations about the disease
Clinical Comment
Non-progressive group of retinal disorders with night or dim light vision disturbance/delayed dark adaptation, poor visual acuity, myopia (-0.25 diopters to -5 D to ≥-10 D), nystagmus, strabismus, normal color vision, fundus abnormalities
Synonyms
- Alias: Congenital essential nyctalopia
- Alias: Night blindness (congenital stationary)
- Allelic: Choroidal dystrophy, central areolar 1 (GUCY2)
- Allelic: Cone-rod dystrophy 6 (GUCY2D)
- Allelic: Leber congenital amaurosis 1 (GUCY2D)
- Allelic: Microphthalmia, isolated, with coloboma 10 (RBP4)
- Allelic: Newfoundland rod-cone dystrophy (RLBP1)
- Allelic: Nystagmus, infantile periodic alternating, XL (FRMD7)
- Allelic: Retinitis pigmentosa-40 (PDE6B)
- Aland Island eye disease (CACNA1F)
- Blue cone monochromacy (OPN1LW, OPN1MW)
- Bothnia retinal dystrophy (RLBP1)
- Colorblindness, deutan (OPN1MW)
- Colorblindness, protan (OPN1LW)
- Cone-rod dystrophy, XL, 3 (CACNA1F)
- Cone-rod synaptic disorder, congenital nonprogressive (CABP4)
- Fundus albipunctatus (RDH5)
- Fundus albipunctatus (RLBP1)
- Hypertension, essential, susceptibility to Night blindness, congenital stationary, type 1H (GNB3)
- Night blindness, congenital stationary (complete), 1A, XL (NYX)
- Night blindness, congenital stationary (complete), 1B, AR (GRM6)
- Night blindness, congenital stationary (complete), 1C, AR (TRPM1)
- Night blindness, congenital stationary (complete), 1D, AR (SLC24A1)
- Night blindness, congenital stationary (complete), 1E, AR (GPR179)
- Night blindness, congenital stationary (complete), 1F, AR (LRIT3)
- Night blindness, congenital stationary (incomplete), 2A, XL (CACNA1F)
- Night blindness, congenital stationary, 1G (GNAT1)
- Night blindness, congenital stationary, AD 1 (RHO)
- Night blindness, congenital stationary, AD 2 (PDE6B)
- Night blindness, congenital stationary, AD 3 (GNAT1)
- Night blindness, congenital stationary, type 1I (GUCY2D)
- Nystagmus 1, congenital, XL (FRMD7)
- Oguchi disease-2 (GRK1)
- Retinal cone dystrophy 4 (CACNA2D4)
- Retinal dystrophy, iris coloboma, comedogenic acne syndrome (RBP4)
- Retinitis pigmentosa 4, AD or AR (RHO)
- Retinitis pigmentosa 47 (SAG)
- Retinitis punctata albescens (RHO)
- Retinitis punctata albescens (RLBP1)
- Retinoschisis (RS1)
Heredity, heredity patterns etc.
- AD
- AR
- XL
- XLR
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
H53.6
Bioinformatics and clinical interpretation
No text defined