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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

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)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
CABP4828AR
CACNA1F5934XL
GNAT11053AD, AR
GPR1797104AR
GRM62634AR
NYX1446XLR
PDE6B2565AD, AR
RHO1047AD
SLC24A11281n.k.
TRPM14929AR
CACNA2D43414AR
FRMD72145XL
GNB31023AR
GRK11692AR
GUCY2D3312AD, AR
LRIT32040AR
RBP4606AR
RDH5957AD, AR
RLBP1954AD, AR
RS1675XLR
SAG1218AR

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