- Conjunctival hyperemia (HP:0030953): Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera. Evidence: PCS. (PMID:29366613)
- Epiphora (HP:0009926): Abnormally increased lacrimation, that is, excessive tearing (watering eye). Evidence: IEA. (OMIM:148200)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 29/33. (PMID:29366613)
- Opacification of the corneal stroma (HP:0007759): Reduced transparency of the stroma of cornea. Evidence: PCS. Frequency: 18/34. (PMID:29366613)
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: PCS. Frequency: 34/34. (PMID:29366613)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 4/33. (PMID:29366613)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: PCS. (PMID:29366613)
- Epiretinal membrane (HP:0100014): An epiretinal membrane is a thin sheet of fibrous tissue on the surface of the retina along the inner limiting membrane. It appears as a greyish semi-translucent avascular membrane over the internal limiting membrane (ILM) on the surface of the retina. Evidence: PCS. Frequency: 2/34. (PMID:29366613)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:29366613)
- Blurred vision (HP:0000622): Lack of sharpness of vision resulting in the inability to see fine detail. Evidence: PCS. (PMID:29366613)
These phenotypes are associated with the disease keratitis fugax hereditaria (OMIM:148200).