- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 2/2. (PMID:23246293)
- 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: 1/2. (PMID:23246293)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/2. (PMID:23246293)
- Retinal perforation (HP:0011958): A hole through the whole thickness of the retina, associated with trauma. Evidence: PCS. Frequency: 1/2. (PMID:23246293)
- 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:23246293)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 2/2. (PMID:23246293)
- 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: 2/2. (PMID:23246293)
- 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: 1/2. (PMID:23246293)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 2/2. (PMID:23246293)
These phenotypes are associated with the disease congenital stationary night blindness 1F (OMIM:615058).