- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/4. (PMID:33077892)
- Hyperautofluorescent macular lesion (HP:0030631): Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. Evidence: PCS. Frequency: 1/4. (PMID:33077892)
- Hypoautofluorescent retinal lesion (HP:0025159): Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. Evidence: PCS. Frequency: 2/4. (PMID:33077892)
- Perifoveal ring of hyperautofluorescence (HP:0030629). Evidence: PCS. Frequency: 1/4. (PMID:33077892)
- Absent foveal reflex (HP:0030825): Absent reflectivity of the fovea, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope. Evidence: PCS. Frequency: 1/4. (PMID:33077892)
- Bull's eye maculopathy (HP:0011504): Progressive maculopathy characterized by concentric regions of hyper- and hypopigmentation, with an initial foveal sparing and whose appearance is said to resemble the central target of a dart board. Evidence: PCS. Frequency: 1/4. (PMID:33077892)
- Undetectable pattern electroretinogram (HP:0030844): Absent response to a pattern electroretinogram (PERG). Evidence: PCS. Frequency: 1/4. (PMID:33077892)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 3/4. (PMID:33077892)
- 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. Frequency: 2/4. (PMID:33077892)
- 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:33077892)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 4/4. (PMID:33077892)
- Retinal pigment epithelial atrophy (HP:0007722): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE). Evidence: PCS. Frequency: 1/4. (PMID:33077892)
- Attenuation of retinal blood vessels (HP:0007843): Narrowing of the retinal blood vessels, both arterioles and venules. Evidence: PCS. Frequency: 1/4. (PMID:33077892)
These phenotypes are associated with the disease cone-rod dystrophy 22 (OMIM:619531).