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Autosomal dominant congenital stationary night blindness

Reviewed November 2013

What is autosomal dominant congenital stationary night blindness?

Autosomal dominant congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they are not able to identify road signs at night and some people cannot see stars in the night sky. Affected individuals have normal daytime vision and typically do not have other vision problems related to this disorder.

The night blindness associated with this condition is congenital, which means it is present from birth. This vision impairment tends to remain stable (stationary); it does not worsen over time.

How common is autosomal dominant congenital stationary night blindness?

Autosomal dominant congenital stationary night blindness is likely a rare disease; however, its prevalence is unknown.

What genes are related to autosomal dominant congenital stationary night blindness?

Mutations in the RHO, GNAT1, or PDE6B gene cause autosomal dominant congenital stationary night blindness. The proteins produced from these genes are necessary for normal vision, particularly in low-light conditions. These proteins are found in specialized light receptor cells in the retina called rods. Rods transmit visual signals from the eye to the brain when light is dim.

The RHO gene provides instructions for making a protein called rhodopsin, which is turned on (activated) by light entering the eye. Rhodopsin then attaches (binds) to and activates the protein produced from the GNAT1 gene, alpha (α)-transducin. The α-transducin protein then triggers the activation of a protein called cGMP-PDE, which is made up of multiple parts (subunits) including a subunit produced from the PDE6B gene. Activated cGMP-PDE triggers a series of chemical reactions that create electrical signals. These signals are transmitted from rod cells to the brain, where they are interpreted as vision.

Mutations in the RHO, GNAT1, or PDE6B gene disrupt the normal signaling that occurs within rod cells. As a result, the rods cannot effectively transmit signals to the brain, leading to a lack of visual perception in low light.

Related Gene(s)

Changes in these genes are associated with autosomal dominant congenital stationary night blindness.

  • GNAT1
  • PDE6B
  • RHO

How do people inherit autosomal dominant congenital stationary night blindness?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In most cases, an affected person has one parent with the condition.

Where can I find information about diagnosis or management of autosomal dominant congenital stationary night blindness?

These resources address the diagnosis or management of autosomal dominant congenital stationary night blindness and may include treatment providers.

  • Genetic Testing Registry: Congenital stationary night blindness (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0339535)

You might also find information on the diagnosis or management of autosomal dominant congenital stationary night blindness in Educational resources (http://www.ghr.nlm.nih.gov/condition/autosomal-dominant-congenital-stationary-night-blindness/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/autosomal-dominant-congenital-stationary-night-blindness/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about autosomal dominant congenital stationary night blindness?

You may find the following resources about autosomal dominant congenital stationary night blindness helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for autosomal dominant congenital stationary night blindness?

  • adCSNB
  • CSNBAD
  • night blindness, congenital stationary, autosomal dominant

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about autosomal dominant congenital stationary night blindness?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding autosomal dominant congenital stationary night blindness?

autosomal ; autosomal dominant ; cell ; congenital ; gene ; inherited ; perception ; photoreceptor ; prevalence ; protein ; receptor ; retina ; rods ; subunit ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T. Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet. 1994 May;7(1):64-8. Erratum in: Nat Genet. 1994 Aug;7(4):551. (http://www.ncbi.nlm.nih.gov/pubmed/8075643?dopt=Abstract)
  • McAlear SD, Kraft TW, Gross AK. 1 rhodopsin mutations in congenital night blindness. Adv Exp Med Biol. 2010;664:263-72. doi: 10.1007/978-1-4419-1399-9_30. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20238025?dopt=Abstract)
  • Szabo V, Kreienkamp HJ, Rosenberg T, Gal A. p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness. Hum Mutat. 2007 Jul;28(7):741-2. (http://www.ncbi.nlm.nih.gov/pubmed/17584859?dopt=Abstract)
  • Tsang SH, Woodruff ML, Jun L, Mahajan V, Yamashita CK, Pedersen R, Lin CS, Goff SP, Rosenberg T, Larsen M, Farber DB, Nusinowitz S. Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness. Hum Mutat. 2007 Mar;28(3):243-54. (http://www.ncbi.nlm.nih.gov/pubmed/17044014?dopt=Abstract)
  • Zeitz C, Gross AK, Leifert D, Kloeckener-Gruissem B, McAlear SD, Lemke J, Neidhardt J, Berger W. Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB. Invest Ophthalmol Vis Sci. 2008 Sep;49(9):4105-14. doi: 10.1167/iovs.08-1717. Epub 2008 May 16. (http://www.ncbi.nlm.nih.gov/pubmed/18487375?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2013
Published: October 27, 2014