- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: TAS. (OMIM:605750)
- Retinal fold (HP:0008052): A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy. Evidence: TAS. (OMIM:605750)
- Retinal hole (HP:0011530): A full-thickness defect in the retina. Evidence: TAS. (OMIM:605750)
- Reduced visual acuity (HP:0007663). Evidence: TAS. (OMIM:605750)
- Exudative vitreoretinopathy (HP:0030490). Evidence: IEA. (OMIM:605750)
- Retinal exudate (HP:0001147): Yellow-white intraretinal deposits in the retina typically associated with damaged inner blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature. Evidence: TAS. (OMIM:605750)
- 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:605750)
These phenotypes are associated with the disease exudative vitreoretinopathy 3 (OMIM:605750).