- Constriction of peripheral visual field (HP:0001133, a Human Phenotype Ontology term): 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:30932721;PMID:26964041)
- Vitreous floaters (HP:0100832, a Human Phenotype Ontology term): Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent. Evidence: PCS. Frequency: 2/3. (PMID:26964041)
- Spicular pigmentation of the retina (HP:0007737, a Human Phenotype Ontology term): Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone). Evidence: PCS. Frequency: 12/12. (PMID:30932721;PMID:26964041)
- Juvenile onset (HP:0003621, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/2. (PMID:30932721)
- Nyctalopia (HP:0000662, a Human Phenotype Ontology term): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 12/12. (PMID:30932721;PMID:26964041)
- Asteroid hyalosis (HP:0030672, a Human Phenotype Ontology term): The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits. Evidence: PCS. (PMID:30932721)
- Reduced visual acuity (HP:0007663, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 5/5. (PMID:30932721;PMID:26964041)
- Cystoid macular edema (HP:0011505, a Human Phenotype Ontology term): 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: 1/3. (PMID:26964041)
- Rod-cone dystrophy (HP:0000510, a Human Phenotype Ontology term): 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. Frequency: 3/3. (PMID:26964041)
- Posterior subcapsular cataract (HP:0007787, a Human Phenotype Ontology term): A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule. Evidence: PCS. Frequency: 3/3. (PMID:26964041)
- Attenuation of retinal blood vessels (HP:0007843, a Human Phenotype Ontology term): Narrowing of the retinal blood vessels, both arterioles and venules. Evidence: PCS. (PMID:26964041)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:26964041)
These phenotypes are associated with the disease retinitis pigmentosa 83 (OMIM:618173, an entry in Online Mendelian Inheritance in Man).