- Abnormality of refraction (HP:0000539): An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49382)
- Color vision defect (HP:0000551): An anomaly in the ability to discriminate between or recognize colors. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49382)
- 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. Frequency: Very frequent (HP:0040281). (ORPHA:49382)
- Monochromacy (HP:0007803): Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49382)
- Pendular nystagmus (HP:0012043): Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49382)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49382)
- Color vision test abnormality (HP:0030584). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49382)
- Inner retinal layer loss on macular OCT (HP:0030620). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49382)
- Hypermetropia (HP:0000540): An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:49382)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:49382)
- Central scotoma (HP:0000603): An area of depressed vision located at the point of fixation and that interferes with central vision. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:49382)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:49382)
- Hypoplasia of the fovea (HP:0007750): Underdevelopment of the fovea centralis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:49382)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:49382)
- Abnormal macular morphology (HP:0001103): A structural abnormality of the macula, a region that, in a clinical context, is typically used to describe the central part of the retina within the vascular arcades. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:49382)
- Abnormal pupillary light reflex (HP:0007695): An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:49382)
- Retinal pigment epithelial mottling (HP:0007814): Mottling (spots or blotches of different shades) of the retinal pigment epithelium, i.e., localized or generalized fundus pigment granularity associated with processes at the level of the retinal pigment epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:49382)
- Attenuation of retinal blood vessels (HP:0007843): Narrowing of the retinal blood vessels, both arterioles and venules. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:49382)
- Eccentric visual fixation (HP:0025549): A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:49382)
- Retinal pigment epithelial atrophy (HP:0007722): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:49382)
These phenotypes are associated with the disease Achromatopsia (ORPHA:49382).