Congenital Stationary Night Blindness

Description

Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities.

Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Stationary Night Blindness

  • Nystagmus
  • Strabismus
  • Myopia
  • Blindness
  • Reduced visual acuity
  • Nyctalopia
  • Hypermetropia
  • Ophthalmoplegia
  • Esotropia
  • High myopia

And another 13 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Congenital Stationary Night Blindness Is also known as hemeralopia-myopia, myopia-night blindness, night blindness, congenital stationary, with myopia, csnb, complete, x-linked, nbm1, congenital essential nyctalopia.

Researches and researchers

Doctors, researchs, and experts related to Congenital Stationary Night Blindness extracted from public data.

Congenital Stationary Night Blindness Experts map



Current Researchs and researchers

  • PARIS — Pr Isabelle AUDO

    Clinical expert - Investigator of research project - Coordinator of research network

    • Institution/s:
      — Centre de la Rétine, Centre hospitalier national d'ophtalmologie des Quinze-Vingts
      — Institut de la Vision
    • Research area/topic::

      RHORCOD: comprehensive analysis of rod-cone photoreceptor degeneration associated with Rhodopsin gene mutations


  • PARIS — Dr Christina ZEITZ

    Investigator of research project

    • Institution/s:
      — Institut de la Vision
    • Research area/topic::

      GPR179: Elucidation of function and role in retina pathophysiology of the G protein-coupled receptor GPR179


  • BERLIN — Pr Klaus RÜTHER

    Coordinator of expert centre - Clinical expert - Investigator of research project

    • Institution/s:
      — Augenarzt-Praxis in Berlin-Mitte
    • Research area/topic::

      Phenotyping of mouse lines with retinal functional impairment and retinal degeneration


  • NAPOLI — Dr Alberto AURICCHIO

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — TIGEM - Telethon Institute of Genetics and Medicine
    • Research area/topic::

      AAVEYE: optimization of AAV-mediated photoreceptor gene transfer for gene therapy of PDE6B and AIPL1 deficiencies (WP1)


  • LAUSANNE — Dr Yvan ARSENIJEVIC

    Investigator of research project

    • Institution/s:
      — Unit of Gene Therapy & Stem Cell Biology - Hôpital Ophtalmique Jules Gonin, Hopital Ophtalmique Jules Gonin - Fondation Asile des aveugles
    • Research area/topic::

      AAVEYE: combined therapies to restore vision in Pde6B and Aipl1 murine mutants (WP3)


  • LONDON — Pr Robin ALI

    Investigator of research project

    • Institution/s:
      — UCL Institute of Ophthalmology
    • Research area/topic::

      AAVEYE: gene replacement therapy in Pde6B and Aipl1 murine mutants (WP2)


Congenital Stationary Night Blindness Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
2 %
Genes
80 %
Cone-Rod Dystrophy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, CNNM4, SEMA4A, TULP1, CFAP410, BEST1, RPGRIP1, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, EYS, ADAM9, CERKL , (...)

View the complete list with 16 more genes
Specificity
6 %
Genes
14 %
Congenital Stationary Night Blindness Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RHO, GRK1, SAG, SLC24A1, CABP4, CACNA1F, LRIT3, GPR179, GNAT1, GNB3, GRM6, TRPM1, NYX, PDE6B, RDH5
Specificity
94 %
Genes
94 %
CACNA1F.

By Institute for Human Genetics University Clinic Freiburg (Germany).

CACNA1F
Specificity
100 %
Genes
7 %
CACNA1F mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

CACNA1F
Specificity
100 %
Genes
7 %
Aland Island eye disease (sequence analysis of CACNA1F gene).

By CGC Genetics (Portugal).

CACNA1F
Specificity
100 %
Genes
7 %
Cone-rod dystrophy (NGS panel of 36 genes).

By CGC Genetics (Portugal).

RGS9, RPGR, CNNM4, SEMA4A, BEST1, RPGRIP1, CABP4, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, ADAM9, CERKL, CRX , (...)

View the complete list with 15 more genes
Specificity
9 %
Genes
20 %
Night blindness, congenital stationary (NGS panel of 13 genes).

By CGC Genetics (Portugal).

RHO, GRK1, SAG, SLC24A1, CACNA1F, LRIT3, GPR179, GNAT1, GNB3, GRM6, TRPM1, NYX, PDE6B
Specificity
100 %
Genes
87 %

You can get up to 237 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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