Phenotypes associated with the disease retinitis pigmentosa 19 (OMIM:601718, an entry in Online Mendelian Inheritance in Man):
- 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. (PMID:9070931)
- 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: TAS. (OMIM:601718)
- Nyctalopia (HP:0000662, a Human Phenotype Ontology term): Inability to see well at night or in poor light. Evidence: PCS. Onset: Juvenile onset (HP:0003621, a Human Phenotype Ontology term). (PMID:9070931)
- Autosomal recessive inheritance (HP:0000007, 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 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:9425888)
- Reduced visual acuity (HP:0007663, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:601718)
- Visual impairment (HP:0000505, a Human Phenotype Ontology term): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: PCS. Onset: Juvenile onset (HP:0003621, a Human Phenotype Ontology term). (PMID:9070931)
- 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: TAS. (OMIM:601718)
- Optic disc pallor (HP:0000543, a Human Phenotype Ontology term): 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: TAS. (OMIM:601718)
- Attenuation of retinal blood vessels (HP:0007843, a Human Phenotype Ontology term): Narrowing of the retinal blood vessels, both arterioles and venules. Evidence: TAS. (OMIM:601718)
- Retinal pigment epithelial atrophy (HP:0007722, a Human Phenotype Ontology term): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE). Evidence: TAS. (OMIM:601718)
- Abnormal electroretinogram (HP:0000512, a Human Phenotype Ontology term): Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. Evidence: PCS. (PMID:9070931)