Phenotypes associated with the disease retinitis pigmentosa 87 with choroidal involvement (OMIM:618697, 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. (PMID:21654732)
- Pigmentary retinopathy (HP:0000580, a Human Phenotype Ontology term): An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. Evidence: PCS. (PMID:21654732)
- Peripheral visual field loss (HP:0007994, a Human Phenotype Ontology term): Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. Evidence: PCS. (PMID:21654732)
- Nummular pigmentation of the retina (HP:0030505, a Human Phenotype Ontology term): Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium. Evidence: PCS. (PMID:21654732)
- Autosomal dominant inheritance (HP:0000006, 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:21654732)
- Chorioretinal atrophy (HP:0000533, a Human Phenotype Ontology term): Atrophy (wasting) of the choroid and retinal layers of the fundus. Evidence: PCS. (PMID:21654732)