- 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: PCS. Frequency: 2/7. (PMID:22325361)
- 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:22325361)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:22325361)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 2/7. (PMID:22325361)
- 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. Frequency: 7/7. (PMID:22325361)
- 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:22325361)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 2/7. (PMID:22325361)
These phenotypes are associated with the disease congenital stationary night blindness 1E (OMIM:614565).