- Undetectable electroretinogram (HP:0000550): Lack of any response to stimulation upon electroretinography. Evidence: PCS. (PMID:30157172)
- 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. (PMID:30157172)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Onset: Juvenile onset (HP:0003621). (PMID:30157172)
- Pigmentary retinopathy (HP:0000580): An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. Evidence: PCS. (PMID:30157172)
- Photoreceptor layer loss on macular OCT (HP:0030609): Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography. Evidence: PCS. (PMID:30157172)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: PCS. (PMID:30157172)
- 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:30157172)
- Retinal degeneration (HP:0000546): A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells. Evidence: PCS. (PMID:30157172)
- Reduced visual acuity (HP:0007663). Evidence: PCS. (PMID:30157172)
- 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. (PMID:30157172)
- Attenuation of retinal blood vessels (HP:0007843): Narrowing of the retinal blood vessels, both arterioles and venules. Evidence: PCS. (PMID:30157172)
These phenotypes are associated with the disease retinitis pigmentosa 32 (OMIM:609913).