Phenotypes associated with the disease retinal cone dystrophy type 1 (OMIM:180020):
- Color vision defect (HP:0000551): An anomaly in the ability to discriminate between or recognize colors. Evidence: TAS. (OMIM:180020)
- Progressive visual loss (HP:0000529): A reduction of previously attained ability to see. Evidence: TAS. (OMIM:180020)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: TAS. (OMIM:180020)
- Retinal degeneration (HP:0000546): A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells. Evidence: TAS. (OMIM:180020)
- Cone/cone-rod dystrophy (HP:0000548). Evidence: IEA. (OMIM:180020)
- Bull's eye maculopathy (HP:0011504): Progressive maculopathy characterized by concentric regions of hyper- and hypopigmentation, with an initial foveal sparing and whose appearance is said to resemble the central target of a dart board. Evidence: TAS. (OMIM:180020)
- 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: TAS. (OMIM:180020)
- Abnormal electroretinogram (HP:0000512): Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. Evidence: TAS. (OMIM:180020)