Phenotypes associated with the disease birdshot chorioretinopathy (OMIM:605808):
- Vitreous floaters (HP:0100832): Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent. Evidence: PCS. (PMID:25667738)
- Posterior uveitis (HP:0012123): Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid. Evidence: PCS. (PMID:10896989)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. (PMID:25667738)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: PCS. (PMID:10896989)
- Vitritis (HP:0011531): Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity. Evidence: PCS. (PMID:10896989)
- Abnormal chorioretinal morphology (HP:0000532): An abnormality of the choroid and retina. Evidence: TAS. (OMIM:605808)
- Retinal pigment epithelial atrophy (HP:0007722): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE). Evidence: PCS. (PMID:18378316)
- 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: TAS. (OMIM:605808)