Phenotypes associated with the disease retinitis pigmentosa 23 (OMIM:300424):
- Mild myopia (HP:0025573): A mild form of myopia with up to -3.00 diopters. Evidence: PCS. Frequency: 1/2. (PMID:10892847)
- 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: 1/1. (PMID:10892847)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/2. (PMID:10892847)
- Color vision defect (HP:0000551): An anomaly in the ability to discriminate between or recognize colors. Evidence: PCS. Frequency: 1/2. (PMID:10892847)
- Severely reduced visual acuity (HP:0001141): Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05. Evidence: PCS. Frequency: 2/2. (PMID:10892847)
- 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: 1/1. (PMID:10892847)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:22619378)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/2. (PMID:10892847)
- 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: 1/2. (PMID:10892847)
- 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: 2/2. (PMID:10892847)
- Posterior subcapsular cataract (HP:0007787): A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule. Evidence: PCS. Frequency: 1/2. (PMID:10892847)
- 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: 2/2. (PMID:10892847)
- Attenuation of retinal blood vessels (HP:0007843): Narrowing of the retinal blood vessels, both arterioles and venules. Evidence: PCS. Frequency: 1/1. (PMID:10892847)
- Eccentric visual fixation (HP:0025549): A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees. Evidence: PCS. Frequency: 1/2. (PMID:10892847)