Phenotypes associated with the disease Stargardt disease (ORPHA:827):
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:827)
- 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: Very frequent (HP:0040281). (ORPHA:827)
- Color vision defect (HP:0000551): An anomaly in the ability to discriminate between or recognize colors. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:827)
- Central scotoma (HP:0000603): An area of depressed vision located at the point of fixation and that interferes with central vision. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:827)
- 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: Very frequent (HP:0040281). (ORPHA:827)
- 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: Very frequent (HP:0040281). (ORPHA:827)
- Abnormality of visual evoked potentials (HP:0000649): An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:827)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:827)
- Paroxysmal involuntary eye movements (HP:0007704): Sudden-onset episode of abnormal, involuntary eye movements. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:827)
- 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: Very frequent (HP:0040281). (ORPHA:827)
- 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: Very frequent (HP:0040281). (ORPHA:827)
- Abnormal macular pigmentation (HP:0008002): Any deviation from the normal, uniform distribution or appearance of pigment within the macular region of the retina. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:827)
- Retinal thinning on OCT (HP:0030329): Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:827)
- Aplasia/Hypoplasia of the macula (HP:0008059). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:827)
- Yellow/white macular lesion (HP:0030500): A type of white and/or yellow lesion located anywhere within the macula. These lesions can be flat or raised and can vary in size from very small to bigger. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:827)
- Photopsia (HP:0030786): Perceived flashes of light. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:827)