Phenotypes associated with the disease Posterior polymorphous corneal dystrophy (ORPHA:98973):
- Abnormal Descemet membrane morphology (HP:0011490): Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98973)
- Reduced number of corneal endothelial cells (HP:0011491): A reduction in the number of corneal endothelial cells. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98973)
- 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: Occasional (HP:0040283). (ORPHA:98973)
- Amblyopia (HP:0000646): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98973)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98973)
- Anterior synechiae of the anterior chamber (HP:0011483): Adhesions between the iris and the cornea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98973)
- Corneal stromal edema (HP:0012040): Abnormal accumulation of fluid and swelling of the stroma of cornea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98973)
- Uveal ectropion (HP:0025358): Presence of iris pigment epithelium on the anterior surface of the iris. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98973)
- Very low visual acuity (HP:0032122): A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98973)
- Increased corneal curvature (HP:0100692): An increase in the degree of curvature of the cornea compared to normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98973)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98973)
- Esotropia (HP:0000565): A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98973)
- 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: Very rare (HP:0040284). (ORPHA:98973)
- Blurred vision (HP:0000622): Lack of sharpness of vision resulting in the inability to see fine detail. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98973)
- Lacrimation abnormality (HP:0000632): Abnormality of tear production. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98973)
- Ocular hypertension (HP:0007906): Intraocular pressure that is 2 standard deviations above the population mean. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98973)
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98973)
- Ectopia pupillae (HP:0009918): A malposition of the pupil owing to a developmental defect of the iris. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98973)
- Ocular pain (HP:0200026): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98973)
- Chorioretinal atrophy (HP:0000533): Atrophy (wasting) of the choroid and retinal layers of the fundus. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98973)