- Visual loss (HP:0000572): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: IEA. (OMIM:143200)
- Visual field defect (HP:0001123). Evidence: IEA. (OMIM:143200)
- Optically empty vitreous (HP:0030663): Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernible gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity. Evidence: TAS. (PMID:18309337)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: IEA. (OMIM:143200)
- 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:143200)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: IEA. (OMIM:143200)
- Peripheral tractional retinal detachment (HP:0007643): Tractional retinal detachment at the periphery of the retina. Evidence: IEA. (OMIM:143200)
- Exudative vitreoretinopathy (HP:0030490). Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:143200)
- Retinal pigment epithelial atrophy (HP:0007722): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE). Evidence: IEA. (OMIM:143200)
- 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: IEA. (OMIM:143200)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: IEA. (OMIM:143200)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: IEA. (OMIM:143200)
- Chorioretinal atrophy (HP:0000533): Atrophy (wasting) of the choroid and retinal layers of the fundus. Evidence: IEA. (OMIM:143200)
These phenotypes are associated with the disease Wagner disease (OMIM:143200).