- Nuclear cataract (HP:0100018): A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown. Evidence: PCS. Frequency: 2/5. (PMID:26162006)
- Visual field defect (HP:0001123). Evidence: PCS. Frequency: 5/5. (PMID:26162006)
- Ocular hypertension (HP:0007906): Intraocular pressure that is 2 standard deviations above the population mean. Evidence: PCS. Frequency: 5/5. (PMID:26162006)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 5/5. (PMID:26162006)
- Open angle glaucoma (HP:0012108): A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,. Evidence: PCS. Frequency: 5/5. (PMID:26162006)
- Reduced visual acuity (HP:0007663). Evidence: PCS. (PMID:35490425)
- Increased cup-to-disc ratio (HP:0012796): An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. Evidence: PCS. (PMID:35490425)
- 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:26162006)
These phenotypes are associated with the disease Glaucoma 1, open angle, H (OMIM:611276).