Phenotypes associated with the disease retinitis pigmentosa 84 (OMIM:618220, an entry in Online Mendelian Inheritance in Man):
- 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: 1/1. (PMID:24737827)
- Nyctalopia (HP:0000662, a Human Phenotype Ontology term): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 4/4. Onset: Childhood onset (HP:0011463, a Human Phenotype Ontology term). (PMID:24737827)
- Cataract (HP:0000518, a Human Phenotype Ontology term): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: IEA. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (OMIM:618220)
- Visual acuity no light perception (HP:0030553, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 4/4. (PMID:24737827)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 4/4. (PMID:24737827)
- 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:24737827)
- Macular atrophy (HP:0007401, a Human Phenotype Ontology term): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the macula. Evidence: PCS. Frequency: 1/1. (PMID:24737827)
- 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: 4/4. (PMID:24737827)
- Attenuation of retinal blood vessels (HP:0007843, a Human Phenotype Ontology term): Narrowing of the retinal blood vessels, both arterioles and venules. Evidence: PCS. Frequency: 1/1. (PMID:24737827)
- Macular pseudocoloboma (HP:0001116, a Human Phenotype Ontology term): A so-called macular coloboma is characterized by a sharply defined, usually excavated, area without neuroretina and RPE tissues in the central area of the fundus. This lesion is not related to classical colobomas associated with optic fissure closure defects. Evidence: PCS. Frequency: 1/1. (PMID:24737827)