Phenotypes associated with the disease Congenital stationary night blindness (ORPHA:215):
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:215)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:215)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:215)
- Abnormal dark-adapted electroretinogram (HP:0030469): An electroretinographic anomaly detected by dark-adapted full-field ERG. The dark adapted ERG targets rod-pathway function. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:215)
- Strabismus (HP:0000486): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:215)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:215)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:215)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:215)
- Hypermetropia (HP:0000540): An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:215)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:215)
- Reduced amplitude of dark-adapted bright flash electroretinogram a-wave (HP:0030483): An abnormal reduction in the amplitude of the a-wave. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:215)
- Compensatory head posture (HP:0031705): A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:215)
- Color vision defect (HP:0000551): An anomaly in the ability to discriminate between or recognize colors. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:215)
- Abnormal retinal pigmentation (HP:0007703): Any deviation from the normal pigmentation of the retina. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:215)
- Retinal thinning on OCT (HP:0030329): Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:215)