Phenotypes associated with the disease retinitis pigmentosa 88 (OMIM:618826):
- 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: 3/3. Onset: Childhood onset (HP:0011463). (PMID:31833436)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 3/3. (PMID:31833436)
- Macular degeneration (HP:0000608): A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. Evidence: PCS. Frequency: 1/1. (PMID:31236346)
- 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:30025130)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 4/4. (PMID:31833436;PMID:31236346)
- Cystoid macular edema (HP:0011505): Cystoid thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Histological studies show that radially orientated cystoid spaces consisting of ophthalmoscopically clear fluid are often clinically detectable in the macula area. Evidence: PCS. (PMID:31833436)
- Optic disc pallor (HP:0000543): 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: PCS. Frequency: 4/4. (PMID:31833436;PMID:31236346)
- Attenuation of retinal blood vessels (HP:0007843): Narrowing of the retinal blood vessels, both arterioles and venules. Evidence: PCS. Frequency: 4/4. (PMID:31833436;PMID:31236346)
- Exotropia (HP:0000577): A form of strabismus with one or both eyes deviated outward. Evidence: PCS. Frequency: 1/1. (PMID:31236346)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/1. (PMID:31236346)