©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessNight blindness, congenital stationary; differential diagnosis

Request form illness

Summary

Short information

Comprehensive differential diagnostic panel for Night blindness, congenital stationary, containing 10 core candidate genes 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)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CABP4828NM_145200.5AR
CACNA1F5934NM_005183.4XLR
GNAT11053NM_000172.4AD, AR
GPR1797104NM_001004334.4AR
GRM62634NM_000843.4AR
NYX1446NM_022567.2XLR
PDE6B2565NM_000283.4AD, AR
RHO1047NM_000539.3AD, AR
SLC24A11281NM_001254740.2AR
TRPM14929NM_001252020.2AR
CACNA2D43414NM_172364.5AR
FRMD72145NM_194277.3XL
GNB31023NM_002075.4AR
GRK11692NM_002929.3AR
GUCY2D3312NM_000180.4AD, AR
LRIT32040NM_198506.5AR
RBP4606NM_006744.4AR, AD
RDH5957NM_002905.5AD, AR
RLBP1954NM_000326.5AD, AR
RS1675NM_000330.4XLR
SAG1218NM_000541.5AR

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
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined