- Shallow anterior chamber (HP:0000594): Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:613310)
- Tractional retinal detachment (HP:0007917): A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes, in the absence of a full-thickness retinal defect. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:613310)
- Falciform retinal fold (HP:0001493): An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset. Evidence: PCS. Frequency: 2/6. (PMID:20159111)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 3/6. (PMID:20159111)
- 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. Frequency: 3/6. (PMID:20159111)
- Exudative vitreoretinopathy (HP:0030490). Evidence: PCS. (PMID:20159111)
- 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: IEA. (OMIM:613310)
- 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:20159111)
These phenotypes are associated with the disease exudative vitreoretinopathy 5 (OMIM:613310).