- 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: 1/1. (PMID:11379879)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 1/1. Onset: Childhood onset (HP:0011463). (PMID:11379879)
- Macular degeneration (HP:0000608): A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:613767)
- Autosomal recessive inheritance (HP:0000007): 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:11379879)
- Peripheral visual field loss (HP:0007994): Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. Evidence: PCS. Frequency: 1/1. (PMID:11379879)
- Rod-cone dystrophy (HP:0000510): 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: 1/1. (PMID:11379879)
- Abnormal electroretinogram (HP:0000512): Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. Evidence: PCS. Frequency: 1/1. (PMID:11379879)
These phenotypes are associated with the disease retinitis pigmentosa 45 (OMIM:613767).