Phenotypes associated with the disease macular corneal dystrophy (OMIM:217800):
- 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: IEA. (OMIM:217800)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: IEA. (OMIM:217800)
- Decreased corneal thickness (HP:0100689): A decreased anteroposterior thickness of the cornea. Evidence: PCS. (PMID:26604660)
- 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:11017086)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: IEA. (OMIM:217800)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:11017086)
- Macular dystrophy (HP:0007754): Macular dystrophy is a nonspecific term for retinal degeneration, generally confined to the macula, usually presumed of genetic origin. Evidence: PCS. (PMID:11017086)
- Punctate opacification of the cornea (HP:0007856): Punctate opacification (reduced transparency) of the corneal stroma. Evidence: IEA. (OMIM:217800)