- 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: Very frequent (HP:0040281). (ORPHA:566)
- Iris hypopigmentation (HP:0007730): An abnormal reduction in the amount of pigmentation of the iris. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:566)
- Hypoplastic iris stroma (HP:0007990): Underdevelopment of the stroma of iris. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:566)
- Iris transillumination defect (HP:0012805): Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:566)
- Astigmatism (HP:0000483): A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:566)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:566)
- 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: Frequent (HP:0040282). (ORPHA:566)
- Ocular hypertension (HP:0007906): Intraocular pressure that is 2 standard deviations above the population mean. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:566)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:566)
- Open angle glaucoma (HP:0012108): A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:566)
- Axial myopia (HP:0031730): A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:566)
- Nuclear cataract (HP:0100018): A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:566)
- Megalocornea (HP:0000485): An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:566)
- Developmental cataract (HP:0000519): A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:566)
- 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. Frequency: Occasional (HP:0040283). (ORPHA:566)
- Blurred vision (HP:0000622): Lack of sharpness of vision resulting in the inability to see fine detail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:566)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:566)
- Corneal stromal edema (HP:0012040): Abnormal accumulation of fluid and swelling of the stroma of cornea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:566)
These phenotypes are associated with the disease Congenital microcoria (ORPHA:566).