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Congenital stationary night blindness 1E(CSNB1E)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Night blindness, congenital stationary (complete), 1E, autosomal recessive
Gene (location): GPR179 (17q12)
Monarch Initiative: MONDO:0013807
OMIM®: 614565


Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive impairment of night vision, absence of the electroretinogram (ERG) b-wave, and variable degrees of involvement of other visual functions. Individuals with cCSNB and animal models of the disorder have an ERG waveform that lacks the b-wave because of failure to transmit the photoreceptor signal through the retinal depolarizing bipolar cells (summary by Peachey et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500). [from OMIM]

Additional description

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

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).  https://medlineplus.gov/genetics/condition/autosomal-recessive-congenital-stationary-night-blindness

Clinical features

From HPO
MedGen UID:
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Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
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Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Reduced visual acuity
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Diminished clarity of vision.
High myopia
MedGen UID:
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Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.
Congenital stationary night blindness
MedGen UID:
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Congenital Abnormality
A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.
Visual impairment
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Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

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