Phenotypes associated with the disease congenital stationary night blindness 1B (OMIM:257270):
- Spicular pigmentation of the retina (HP:0007737): Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone). Evidence: PCS. Frequency: 1/2. Onset: Young adult onset (HP:0011462). (PMID:15781871)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 3/3. (PMID:15781871)
- Hemeralopia (HP:0012047): A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness. Evidence: TAS. (OMIM:257270)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 3/3. (PMID:15781871)
- 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:15781871)
- 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: 3/3. (PMID:15781871)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. Frequency: 2/3. (PMID:15781871)
- Horizontal nystagmus (HP:0000666): Nystagmus consisting of horizontal to-and-fro eye movements. Evidence: PCS. Frequency: 1/3. (PMID:15781871)