- 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:98977)
- Abnormality iris morphology (HP:0000525): An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98977)
- Abnormal optic nerve morphology (HP:0000587): Abnormality of the optic nerve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98977)
- Abnormal anterior chamber morphology (HP:0000593): Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98977)
- Optic neuropathy (HP:0001138). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98977)
- Glaucomatous visual field defect (HP:0007854). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98977)
- Ocular hypertension (HP:0007906): Intraocular pressure that is 2 standard deviations above the population mean. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98977)
- Peripheral visual field loss (HP:0007994): Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98977)
- 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:98977)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98977)
- Temporal optic disc pallor (HP:0012511): A pale yellow discoloration of the temporal (lateral) portion of the optic disc. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98977)
- Increased cup-to-disc ratio (HP:0012796): An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98977)
- Central scotoma (HP:0000603): An area of depressed vision located at the point of fixation and that interferes with central vision. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98977)
- Retinal venous occlusion (HP:0012636): Blockage of a retinal vein or venule, occurring typically at an arteriovenous crossing. Typically presenting with dilated veins, retinal hemorrhages and in some cases non-perfusion. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98977)
- Retinal arterial occlusion (HP:0025326): Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98977)
These phenotypes are associated with the disease Juvenile glaucoma (ORPHA:98977).