- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 0/2. (PMID:35456423)
- Undetectable light-adapted electroretinogram (HP:0030465): No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells. Evidence: PCS. Frequency: 2/2. (PMID:35456423)
- Achromatopsia (HP:0011516): A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult. Evidence: PCS. Frequency: 15/16. (PMID:17265047)
- Absent foveal reflex (HP:0030825): Absent reflectivity of the fovea, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope. Evidence: PCS. Frequency: 1/16. (PMID:17265047)
- Retinal thinning on OCT (HP:0030329): Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT). Evidence: PCS. Frequency: 1/2. (PMID:35456423)
- Myopic astigmatism (HP:0500041): A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest. Evidence: PCS. Frequency: 2/2. (PMID:35456423)
- Peripapillary atrophy (HP:0500087): Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve. Evidence: PCS. Frequency: 1/2. (PMID:35456423)
- Dull foveal reflex (HP:0034362): Reduced brightness of the foveal reflex, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope. Evidence: PCS. Frequency: 6/16. (PMID:17265047)
- Hemeralopia (HP:0012047): A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness. Evidence: PCS. Frequency: 2/2. (PMID:35456423)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 2/2. (PMID:35456423)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/2. (PMID:35456423)
- Pendular nystagmus (HP:0012043): Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction. Evidence: PCS. Frequency: 4/16. (PMID:17265047)
- 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: 2/2. (PMID:35456423)
- Hypoplasia of the fovea (HP:0007750): Underdevelopment of the fovea centralis. Evidence: PCS. Frequency: 5/16. (PMID:17265047)
- 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:9662398)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 17/17. (PMID:17265047;PMID:35456423)
These phenotypes are associated with the disease achromatopsia 2 (OMIM:216900).