- Peripheral retinal degeneration (HP:0007769): Progressive loss of peripheral retinal pigment epithelium (RPE) and/or neurosensory retinal cells. Evidence: TAS. (OMIM:609021)
- Pallor (HP:0000980): Abnormally pale skin. Evidence: IEA. (OMIM:609021)
- Pericentral scotoma (HP:0007761): A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point. Evidence: TAS. Frequency: 2/3. (OMIM:609021)
- 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: TAS. (OMIM:609021)
- 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: TAS. (OMIM:609021)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: TAS. Frequency: 2/3. (OMIM:609021)
- Cone/cone-rod dystrophy (HP:0000548). Evidence: IEA. (OMIM:609021)
- 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: TAS. (OMIM:609021)
- Paracentral scotoma (HP:0030528). Evidence: IEA. (OMIM:609021)
These phenotypes are associated with the disease peripheral cone dystrophy (OMIM:609021).