Phenotypes associated with the disease cone-rod dystrophy 2 (OMIM:120970):
- Constriction of peripheral visual field (HP:0001133): An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye. Evidence: PCS. Frequency: 7/7. (PMID:9610810)
- Macular hyperpigmentation (HP:0011509): Increased amount of pigmentation in the macula. Evidence: PCS. Frequency: 7/7. (PMID:24136862)
- 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:15531334)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Onset: Young adult onset (HP:0011462). (PMID:7864751)
- Color vision defect (HP:0000551): An anomaly in the ability to discriminate between or recognize colors. Evidence: PCS. Frequency: 7/7. Onset: Juvenile onset (HP:0003621). (PMID:9610810)
- Metamorphopsia (HP:0012508): A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. Evidence: PCS. Frequency: 1/1. (PMID:15531334)
- Blindness (HP:0000618): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: TAS. (OMIM:120970)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 7/7. Onset: Juvenile onset (HP:0003621). (PMID:9610810)
- 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: TAS. (OMIM:120970)
- Cone/cone-rod dystrophy (HP:0000548). Evidence: PCS. (PMID:9610810)
- Central scotoma (HP:0000603): An area of depressed vision located at the point of fixation and that interferes with central vision. Evidence: PCS. (PMID:7864751)
- Retinal pigment epithelial atrophy (HP:0007722): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE). Evidence: PCS. Frequency: 1/1. (PMID:15531334)
- Autosomal dominant inheritance (HP:0000006): 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:9610810)
- Abnormal electroretinogram (HP:0000512): Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. Evidence: PCS. (PMID:24136862)
- Chorioretinal atrophy (HP:0000533): Atrophy (wasting) of the choroid and retinal layers of the fundus. Evidence: TAS. (OMIM:120970)