- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 2/2. (PMID:11006213;PMID:35947183)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 2/3. (PMID:11006213;PMID:35947183)
- Color vision defect (HP:0000551): An anomaly in the ability to discriminate between or recognize colors. Evidence: PCS. Frequency: 1/2. (PMID:11006213)
- Macular drusen (HP:0030499): Drusen localted in the macula. Evidence: PCS. Frequency: 1/1. (PMID:35947183)
- Pigmentary retinopathy (HP:0000580): An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. Evidence: PCS. Frequency: 1/1. (PMID:23563732)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:23563732)
- 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:35947183)
- Pericentral scotoma (HP:0007761): A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point. Evidence: PCS. Frequency: 1/2. (PMID:11006213)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: PCS. Frequency: 2/3. (PMID:23563732;PMID:11006213)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 1/2. (PMID:11006213)
- Macular atrophy (HP:0007401): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the macula. Evidence: PCS. Frequency: 1/2. (PMID:11006213)
- Cone/cone-rod dystrophy (HP:0000548). Evidence: PCS. Frequency: 2/3. (PMID:11006213;PMID:35947183)
- Attenuation of retinal blood vessels (HP:0007843): Narrowing of the retinal blood vessels, both arterioles and venules. Evidence: PCS. Frequency: 1/1. (PMID:23563732)
- Scotoma (HP:0000575): A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision. Evidence: PCS. Frequency: 1/1. (PMID:35947183)
- 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:11006213)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. Frequency: 1/2. (PMID:11006213)
These phenotypes are associated with the disease cone-rod dystrophy 24 (OMIM:620342).