Phenotypes associated with the disease Macular corneal dystrophy (ORPHA:98969):
- Corneal crystals (HP:0000531). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98969)
- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98969)
- Opacification of the corneal stroma (HP:0007759): Reduced transparency of the stroma of cornea. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98969)
- Punctate opacification of the cornea (HP:0007856): Punctate opacification (reduced transparency) of the corneal stroma. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98969)
- Recurrent corneal erosions (HP:0000495): The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98969)
- Severely reduced visual acuity (HP:0001141): Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98969)
- Decreased corneal thickness (HP:0100689): A decreased anteroposterior thickness of the cornea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98969)
- Hyperopic astigmatism (HP:0000484): A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98969)
- 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: Occasional (HP:0040283). (ORPHA:98969)
- Decreased corneal sensation (HP:0012155): Reduced ability of the cornea to respond to stimulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98969)
- Ocular pain (HP:0200026): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98969)