Phenotypes associated with the disease retinitis pigmentosa 97 (OMIM:620422, an entry in Online Mendelian Inheritance in Man):
- Iris atrophy (HP:0001089, a Human Phenotype Ontology term): Loss of iris tissue (atrophy). Evidence: PCS. Frequency: 1/11. (PMID:37012052)
- Juvenile onset (HP:0003621, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 5/9. (PMID:37012052)
- Nyctalopia (HP:0000662, a Human Phenotype Ontology term): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 11/11. (PMID:37012052)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 4/9. (PMID:37012052)
- Macular degeneration (HP:0000608, a Human Phenotype Ontology term): A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. Evidence: PCS. Frequency: 11/11. (PMID:37012052)
- Amblyopia (HP:0000646, a Human Phenotype Ontology term): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: PCS. Frequency: 2/11. (PMID:37012052)
- Reduced visual acuity (HP:0007663, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 11/11. (PMID:37012052)
- 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: 11/11. (PMID:37012052)
- 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:37012052)