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Autosomal recessive congenital stationary night blindness

Autosomal recessive congenital stationary night blindness

Reviewed January 2014

What is autosomal recessive congenital stationary night blindness?

Autosomal recessive 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 may not be able to identify road signs at night or see stars in the night sky. They also often have other vision problems, including loss of sharpness (reduced acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus).

The vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time.

How common is autosomal recessive congenital stationary night blindness?

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

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

Mutations in several genes can cause autosomal recessive congenital stationary night blindness. Each of these genes provide instructions for making proteins that are found in the retina. These proteins are involved in sending (transmitting) visual signals from cells called rods, which are specialized for vision in low light, to cells called bipolar cells, which relay the signals to other retinal cells. This signaling is an essential step in the transmission of visual information from the eyes to the brain.

Mutations in two genes, GRM6 and TRPM1, cause most cases of this condition. These genes provide instructions for making proteins that are necessary for bipolar cells to receive and relay signals. Mutations in other genes involved in the same bipolar cell signaling pathway are likely responsible for a small percentage of cases of autosomal recessive congenital stationary night blindness.

Gene mutations that cause autosomal recessive congenital stationary night blindness disrupt the transmission of visual signals between rod cells and bipolar cells or interfere with the bipolar cells' ability to pass on these signals. As a result, visual information received by rod cells cannot be effectively transmitted to the brain, leading to difficulty seeing in low light. The cause of the other vision problems associated with this condition is unclear. It has been suggested that the mechanisms that underlie night blindness can interfere with other visual systems, causing myopia, reduced visual acuity, and other impairments.

Some people with autosomal recessive congenital stationary night blindness have no identified mutation in any of the known genes. The cause of the disorder in these individuals is unknown.

Read more about the GRM6 and TRPM1 genes.

See a list of genes associated with autosomal recessive congenital stationary night blindness.

How do people inherit autosomal recessive congenital stationary night blindness?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

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

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

You might also find information on the diagnosis or management of autosomal recessive 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 recessive congenital stationary night blindness?

You may find the following resources about autosomal recessive 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 recessive congenital stationary night blindness?

  • autosomal recessive complete congenital stationary night blindness
  • autosomal recessive incomplete congenital stationary night blindness

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 recessive congenital stationary night blindness?

Where can I find general information about genetic conditions?

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

autosomal ; autosomal recessive ; cell ; congenital ; gene ; inherited ; involuntary ; mutation ; myopia ; nearsightedness ; nystagmus ; prevalence ; recessive ; retina ; rods ; strabismus ; tissue ; visual acuity

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (10 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: January 2014
Published: December 16, 2014