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Autosomal dominant congenital stationary night blindness

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.

Read more about the GNAT1, PDE6B, and RHO genes.

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.

You might also find information on the diagnosis or management of autosomal dominant congenital stationary night blindness in Educational resources and Patient support.

General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.

To locate a healthcare provider, see How can I find a genetics professional in my area? 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 and How are genetic conditions and genes named? in the Handbook.

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

Where can I find general information about genetic conditions?

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

autosomal ; autosomal dominant ; cell ; congenital ; gene ; 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.

See also Understanding Medical Terminology.

References (5 links)

 

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? in the Handbook.

 
Reviewed: November 2013
Published: July 7, 2014