Phenotypes associated with the disease retinitis pigmentosa 99 (OMIM:301148):
- 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:40119724)
- 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: 4/4. (PMID:40119724)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 5/5. (PMID:40119724)
- Hypoautofluorescent retinal lesion (HP:0025159): Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. Evidence: PCS. Frequency: 1/2. (PMID:40119724)
- Mildly reduced visual acuity (HP:0032037): Mild reduction of the ability to see. On the 6m visual acuity scale, mild reduction is defined as less than 6/12 but at least 6/18. On the 20ft visual acuity scale, mild reduction is defined as less than 20/40 but at least 20/70. On the decimal visual acuity scale, mild reduction is defined as less than 0.5 but at least 0.3. Evidence: PCS. Frequency: 3/5. (PMID:40119724)
- Perifoveal ring of hyperautofluorescence (HP:0030629). Evidence: PCS. Frequency: 2/2. (PMID:40119724)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 0/5. (PMID:40119724)
- Ring scotoma (HP:0030529): An annular field defect centered on fixation. Evidence: PCS. Frequency: 1/5. (PMID:40119724)
- Dull foveal reflex (HP:0034362): Reduced brightness of the foveal reflex, 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:40119724)
- Focal retinal arteriolar constriction (HP:0008043): Focal decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina. Evidence: PCS. Frequency: 1/1. (PMID:40119724)
- 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:40119724)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 5/5. (PMID:40119724)
- 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: 4/4. (PMID:40119724)
- 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: 4/4. (PMID:40119724)