- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 3/3. (PMID:28132693)
- Photopsia (HP:0030786): Perceived flashes of light. Evidence: PCS. Frequency: 2/3. (PMID:28132693)
- Visual field defect (HP:0001123). Evidence: PCS. Frequency: 3/3. (PMID:28132693)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 3/3. (PMID:28132693)
- 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:28132693)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 3/3. (PMID:28132693)
- Cystoid macular edema (HP:0011505): Cystoid thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Histological studies show that radially orientated cystoid spaces consisting of ophthalmoscopically clear fluid are often clinically detectable in the macula area. Evidence: PCS. Frequency: 2/3. (PMID:28132693)
- Optic disc pallor (HP:0000543): A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. Evidence: PCS. Frequency: 2/3. (PMID:28132693)
These phenotypes are associated with the disease retinitis pigmentosa 78 (OMIM:617433).