People with CSNB often have difficulty adapting to low light situations due to impaired photoreceptor transmission.

In CSNB2, the photoreceptors themselves have impaired neurotransmission function; this is caused primarily by mutations in the gene CACNA1F, which encodes a voltage-gated calcium channel important for neurotransmitter release.

Patients with CSNB often have impaired night vision, myopia, reduced visual acuity, strabismus and nystagmus.

Individuals with the complete form of CSNB (CSNB1) have highly impaired rod sensitivity (reduced ~300x) as well as cone dysfunction.

[10] The malfunctions in CSNB1 specifically affect the ON pathway, by hindering the ability of ON-type bipolar cells to detect neurotransmitter released from photoreceptors.

[16] Mutations associated with CSNB affect amino acid residues near the protonated Schiff base (PSB) linkage.

[17] The complete form of X-linked congenital stationary night blindness, also known as nyctalopia, is caused by mutations in the NYX gene (Nyctalopin on X-chromosome), which encodes a small leucine-rich repeat (LRR) family protein of unknown function.

A naturally occurring deletion of 85 bases in NYX in some mice leads to the "nob" (no b-wave) phenotype, which is highly similar to that seen in CSNB1 patients.

The incomplete form of X-linked congenital stationary night blindness (CSNB2) is caused by mutations in the CACNA1F gene, which encodes the voltage-gated calcium channel CaV1.4 expressed heavily in retina.

Night blindness is a symptom in many patients and diagnosis often occurs through the use of various tests including a electroretinogram to reveal any impairment in the retina "as a whole".