Phenotypes associated with the disease Retinitis punctata albescens (ORPHA:52427, an Orphanet rare-disease identifier):
- Progressive visual loss (HP:0000529, a Human Phenotype Ontology term): A reduction of previously attained ability to see. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:52427)
- Nyctalopia (HP:0000662, a Human Phenotype Ontology term): Inability to see well at night or in poor light. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:52427)
- Abnormal light- and dark-adapted electroretinogram (HP:0008323, a Human Phenotype Ontology term): An abnormality of the combined rod-and-cone response on electroretinogram. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:52427)
- Yellow/white retinal lesion (HP:0030506, a Human Phenotype Ontology term): An area anywhere within the retina showing pale yellow or white discoloration. Such lesions can be flat or raised and there size can range from very small to big. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:52427)
- Absent foveal reflex (HP:0030825, a Human Phenotype Ontology term): Absent reflectivity of the fovea, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:52427)
- Central scotoma (HP:0000603, a Human Phenotype Ontology term): An area of depressed vision located at the point of fixation and that interferes with central vision. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:52427)
- Photophobia (HP:0000613, a Human Phenotype Ontology term): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:52427)
- Progressive night blindness (HP:0007675, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:52427)
- Retinal pigment epithelial mottling (HP:0007814, a Human Phenotype Ontology term): 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, a Human Phenotype Ontology term). (ORPHA:52427)
- Attenuation of retinal blood vessels (HP:0007843, a Human Phenotype Ontology term): Narrowing of the retinal blood vessels, both arterioles and venules. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:52427)
- Progressive visual field defects (HP:0007987, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:52427)
- Peripheral visual field loss (HP:0007994, a Human Phenotype Ontology term): Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:52427)
- Retinal atrophy (HP:0001105, a Human Phenotype Ontology term): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:52427)
- Lenticonus (HP:0001142, a Human Phenotype Ontology term): A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:52427)
- Macular atrophy (HP:0007401, a Human Phenotype Ontology term): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the macula. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:52427)
- Congenital sensorineural hearing impairment (HP:0008527, a Human Phenotype Ontology term): A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:52427)
- Cystoid macular edema (HP:0011505, a Human Phenotype Ontology term): Cystoid thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Histological studies show that radially orientated cystoid spaces consisting of ophthalmoscopically clear fluid are often clinically detectable in the macula area. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:52427)
- Abnormal fundus pigmentation (HP:0031605, a Human Phenotype Ontology term): Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve. Fundus pigmentation should be evaluated in the context of skin and hair color. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:52427)
- Pigmentary retinopathy (HP:0000580, a Human Phenotype Ontology term): 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: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:52427)