Phenotypes associated with the disease corneal dystrophy, Meesmann, 1 (OMIM:122100):
- Epiphora (HP:0009926): Abnormally increased lacrimation, that is, excessive tearing (watering eye). Evidence: TAS. (OMIM:122100)
- Corneal dystrophy (HP:0001131): The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. Evidence: PCS. (PMID:2217484)
- Nonprogressive (HP:0003680): Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age. Evidence: PCS. (PMID:2217484)
- 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. (OMIM:122100)
- Reduced visual acuity (HP:0007663). Evidence: TAS. (OMIM:122100)
- 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:9171831)
- Punctate opacification of the cornea (HP:0007856): Punctate opacification (reduced transparency) of the corneal stroma. Evidence: TAS. (OMIM:122100)