- Chorioretinal atrophy (HP:0000533): Atrophy (wasting) of the choroid and retinal layers of the fundus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:898)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:898)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:898)
- Pigmentary retinopathy (HP:0000580): An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:898)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:898)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:898)
- Presenile cataracts (HP:0007819): Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:898)
- Abnormal full-field electroretinogram (HP:0030466): An anomaly observed by full-field electroretinogram (ffERG). The ffERG measures the light-induced electrical activity of the retina at the corneal surface. Specifically, the ffERG records the global or total retinal electrical response to a full-field (Ganzfield) light stimulus. Isolation of the rod and cone components has important diagnostic value in differentiating between various retinal diseases. Modifying the properties of the light-stimulus (wavelength, strength, and flicker rate) as well as the adaptive state of the retina can separate the rod and cone functions of the ffERG. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:898)
- 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. Frequency: Frequent (HP:0040282). (ORPHA:898)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:898)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:898)
- Ectopic fovea (HP:0025007): An abnormal anatomic position of the fovea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:898)
- Anterior uveitis (HP:0012122): Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:898)
These phenotypes are associated with the disease Wagner disease (ORPHA:898).