Phenotypes associated with the disease retinitis pigmentosa 73 (OMIM:616544):
- 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. (PMID:25859010)
- 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: 2/6. (PMID:25859010)
- Macular crystals (HP:0030501): Crystalline deposits in the macula, located intra-retinally. Evidence: PCS. Frequency: 2/6. (PMID:25859010)
- 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: 3/6. (PMID:25859010)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 5/6. (PMID:25859010)
- Photopsia (HP:0030786): Perceived flashes of light. Evidence: PCS. Frequency: 1/6. (PMID:25859010)
- Color vision defect (HP:0000551): An anomaly in the ability to discriminate between or recognize colors. Evidence: PCS. Frequency: 1/6. (PMID:25859010)
- Visual field defect (HP:0001123). Evidence: PCS. Frequency: 1/6. (PMID:25859010)
- Macular geographic atrophy (HP:0031609): Chronic progressive degeneration of the macula that can be seen as part of late-stage age-related macular degeneration (AMD). Evidence: PCS. Frequency: 1/6. (PMID:25859010)
- Ring scotoma (HP:0030529): An annular field defect centered on fixation. Evidence: PCS. Frequency: 4/6. (PMID:25859010)
- Epiretinal membrane (HP:0100014): An epiretinal membrane is a thin sheet of fibrous tissue on the surface of the retina along the inner limiting membrane. It appears as a greyish semi-translucent avascular membrane over the internal limiting membrane (ILM) on the surface of the retina. Evidence: PCS. Frequency: 1/6. (PMID:25859010)
- Early young adult onset (HP:0025708): Onset of disease at an age of greater than or equal to 16 to under 19 years. Evidence: PCS. Frequency: 1/6. (PMID:25859010)
- Peripapillary atrophy (HP:0500087): Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve. Evidence: PCS. Frequency: 1/6. (PMID:25859010)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/6. (PMID:25859010)
- 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:25859010)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 2/6. (PMID:25859010)
- Central scotoma (HP:0000603): An area of depressed vision located at the point of fixation and that interferes with central vision. Evidence: PCS. Frequency: 1/6. (PMID:25859010)
- 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. Frequency: 2/6. (PMID:25859010)
- 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. Frequency: 6/6. (PMID:25859010)
- Blurred vision (HP:0000622): Lack of sharpness of vision resulting in the inability to see fine detail. Evidence: PCS. Frequency: 1/6. (PMID:25859010)
- Retinal atrophy (HP:0001105): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells. Evidence: PCS. Frequency: 6/6. (PMID:25859010)