- Peripheral retinal neovascularization (HP:0030667): A type of retinal neovascularization that affects the periphery of the retina. Evidence: IEA. (OMIM:193235)
- Vitreous hemorrhage (HP:0007902): Bleeding within the vitreous compartment of the eye. Evidence: IEA. (OMIM:193235)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: IEA. (OMIM:193235)
- Blindness (HP:0000618): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: PCS. Frequency: 20/20. (OMIM:193235)
- Vitreoretinopathy (HP:0007773): Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. Evidence: IEA. (OMIM:193235)
- Uveitis (HP:0000554): Inflammation of one or all portions of the uveal tract. Evidence: PCS. (OMIM:193235)
- 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. (OMIM:193235)
- Abnormal electroretinogram (HP:0000512): Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. Evidence: PCS. (OMIM:193235)
- Posterior retinal neovascularization (HP:0007778): A type of retinal neovascularization that affects the posterior pole of the retina. Evidence: IEA. (OMIM:193235)
- Large hyperpigmented retinal spots (HP:0007658). Evidence: IEA. (OMIM:193235)
These phenotypes are associated with the disease CAPN5-related vitreoretinopathy (OMIM:193235).