Phenotypes associated with the disease congenital stationary night blindness 2A (OMIM:300071):
- Abnormal amplitude of light-adapted flicker electroretinogram (HP:0030479). Evidence: PCS. (PMID:9662399)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 4/7. (PMID:9662399)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 7/7. (PMID:9662399)
- Visual impairment (HP:0000505): 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. Evidence: PCS. (PMID:9662399)
- Early-onset non-progressive night blindness (HP:0007642): A usually nonprogressive (i.e., stationary) form of night blindness with early (presumed to be congenital) onset. Evidence: PCS. (PMID:9662399)
- X-linked inheritance (HP:0001417): A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. Evidence: PCS. (PMID:9662399)
- ERG: Reduced dark-adapted b-wave amplitude (HP:0007984): A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave. Evidence: PCS. Frequency: 7/7. (PMID:9662399)
- Exotropia (HP:0000577): A form of strabismus with one or both eyes deviated outward. Evidence: PCS. Frequency: 2/7. (PMID:9662399)