- Constriction of peripheral visual field (HP:0001133): An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye. Evidence: PCS. Frequency: 4/5. (PMID:33467000)
- 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: 9/9. (PMID:34800980;PMID:33467000)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 9/9. (PMID:34800980;PMID:33467000)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 1/5. (PMID:33467000)
- Color vision defect (HP:0000551): An anomaly in the ability to discriminate between or recognize colors. Evidence: PCS. Frequency: 8/9. (PMID:34800980;PMID:33467000)
- Ring scotoma (HP:0030529): An annular field defect centered on fixation. Evidence: PCS. Frequency: 1/5. (PMID:33467000)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 2/5. (PMID:33467000)
- Perifoveal hypoautofluorescence (HP:0034272): Decreased amount of autofluorescence (emission of fluorescent light from ocular structures in the absence of sodium fluorescein) in the retina in the region surrounding the fovea. Evidence: PCS. Frequency: 4/4. (PMID:34800980)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: IEA. Frequency: 4/5. (PMID:33467000)
- 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: 5/5. (PMID:33467000)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 9/9. (PMID:34800980;PMID:33467000)
- X-linked inheritance (HP:0001417): A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. Evidence: PCS. (PMID:26143542)
- Rod-cone dystrophy (HP:0000510): An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. Evidence: PCS. (PMID:34800980)
These phenotypes are associated with the disease retinitis pigmentosa 3 (OMIM:300029).