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GTR Home > Conditions/Phenotypes > Congenital stationary night blindness 1C

Congenital stationary night blindness 1C

Synonyms
Night blindness, congenital stationary (complete), 1C, autosomal recessive

Summary

The vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time.\n\nAutosomal 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). [from MedlinePlus Genetics]

Available tests

27 tests are in the database for this condition.

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Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CSNB1C, LTRPC1, MLSN1, TRPM1
    Summary: transient receptor potential cation channel subfamily M member 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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