- Progressive visual loss (HP:0000529): A reduction of previously attained ability to see. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85128)
- Color vision defect (HP:0000551): An anomaly in the ability to discriminate between or recognize colors. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85128)
- Visual field defect (HP:0001123). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85128)
- Abnormal dark-adapted electroretinogram (HP:0030469): An electroretinographic anomaly detected by dark-adapted full-field ERG. The dark adapted ERG targets rod-pathway function. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85128)
- Undetectable dark-adapted electroretinogram (HP:0030474). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85128)
- Increased OCT-measured foveal thickness (HP:0030618). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85128)
- Abnormal foveal morphology (HP:0000493): An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85128)
- Abnormality of refraction (HP:0000539): An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85128)
- Retinal degeneration (HP:0000546): A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85128)
- 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:85128)
- Macular degeneration (HP:0000608): A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85128)
- Retinal pigment epithelial mottling (HP:0007814): Mottling (spots or blotches of different shades) of the retinal pigment epithelium, i.e., localized or generalized fundus pigment granularity associated with processes at the level of the retinal pigment epithelium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85128)
- Retinitis (HP:0032118): Inflammation of the retina of the eye. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85128)
- Rod-cone dystrophy (HP:0000510): An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85128)
- Central scotoma (HP:0000603): An area of depressed vision located at the point of fixation and that interferes with central vision. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85128)
- Abnormal choroid morphology (HP:0000610): Any structural abnormality of the choroid (the posterior part of the uvea, the middle tunic of the eye, consisting mainly of blood vessels). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85128)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85128)
- Large central visual field defect (HP:0001129). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85128)
- Retinal pigment epithelial atrophy (HP:0007722): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85128)
- ERG: Reduced dark-adapted b-wave amplitude (HP:0007984): A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85128)
- Paracentral scotoma (HP:0030528). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85128)
- Ring scotoma (HP:0030529): An annular field defect centered on fixation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85128)
These phenotypes are associated with the disease Bothnia retinal dystrophy (ORPHA:85128).
The following phenotypes are NOT associated with this disease:
- Spicular pigmentation of the retina (HP:0007737): Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone). Evidence: TAS. (ORPHA:85128)