- 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: Very frequent (HP:0040281). (ORPHA:1243)
- Color vision defect (HP:0000551): An anomaly in the ability to discriminate between or recognize colors. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1243)
- Visual field defect (HP:0001123). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1243)
- Chorioretinal scalloped atrophy (HP:0001139): Well-defined, pale patches in the fundus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1243)
- Cystoid macular degeneration (HP:0008028): A form of macular degeneration characterized by the presence of multiple cystoid spaces in the macula. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1243)
- Metamorphopsia (HP:0012508): A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1243)
These phenotypes are associated with the disease Best vitelliform macular dystrophy (ORPHA:1243).