Phenotypes associated with the disease Limbal stem cell deficiency (ORPHA:171673):
- 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:171673)
- Lacrimation abnormality (HP:0000632): Abnormality of tear production. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171673)
- Blepharospasm (HP:0000643): A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171673)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171673)
- Decreased corneal reflex (HP:0008000): An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171673)
- Epiphora (HP:0009926): Abnormally increased lacrimation, that is, excessive tearing (watering eye). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171673)
- Conjunctival hyperemia (HP:0030953): Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171673)
- Ocular pain (HP:0200026): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171673)
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171673)
- Corneal scarring (HP:0000559). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171673)
- Opacification of the corneal epithelium (HP:0007727): Lack of transparency of the corneal epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171673)
- Generalized opacification of the cornea (HP:0011494): Generalized reduced transparency of the stroma of the cornea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171673)
- Corneal neovascularization (HP:0011496): Ingrowth of new blood vessels into the cornea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171673)
- Corneal perforation (HP:0100583): A rupture of the cornea through which a portion of the iris protrudes. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:171673)
- Cornea verticillata (HP:0500008): Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:171673)