- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: IEA. Frequency: 4/11. (PMID:15671264)
- Progressive visual loss (HP:0000529): A reduction of previously attained ability to see. Evidence: PCS. (PMID:15671264)
- 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. Frequency: 11/11. Onset: Neonatal onset (HP:0003623). (PMID:15671264)
- Band-shaped corneal dystrophy (HP:0007709): A type of genetically determined disease of the cornea with corneal lesions with a band-like shape. Evidence: PCS. Frequency: 1/4. (PMID:15671264)
- 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. Frequency: 0/11. (PMID:15671264)
- Increased corneal thickness (HP:0011487): A increased anteroposterior thickness of the cornea. Evidence: PCS. (PMID:15671264)
- 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:15671264)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: IEA. Frequency: 3/11. (PMID:15671264)
- Corneal erosion (HP:0200020): An erosion or abrasion of the cornea's outermost layer of epithelial cells. Evidence: PCS. Frequency: 0/11. (PMID:15671264)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 11/11. (PMID:15671264)
These phenotypes are associated with the disease congenital stromal corneal dystrophy (OMIM:610048).