Phenotypes associated with the disease Bietti crystalline dystrophy (ORPHA:41751):
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:41751)
- Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654): Decreased amplitude of eletrical response upon electroretinography. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:41751)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:41751)
- Constriction of peripheral visual field (HP:0001133): An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:41751)
- 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: Frequent (HP:0040282). (ORPHA:41751)
- Crystalline corneal dystrophy (HP:0007760). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:41751)
- Choriocapillaris atrophy (HP:0030491): Atrophy of the capillary lamina of choroid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:41751)
- Subretinal deposits (HP:0031528): Deposits accumulating between the outer retina and the retinal pigment epithelium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:41751)
- Chorioretinal atrophy (HP:0000533): Atrophy (wasting) of the choroid and retinal layers of the fundus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:41751)
- Color vision defect (HP:0000551): An anomaly in the ability to discriminate between or recognize colors. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:41751)
- 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: Occasional (HP:0040283). (ORPHA:41751)
- 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:41751)
- Blindness (HP:0000618): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:41751)
- Large central visual field defect (HP:0001129). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:41751)
- Severely reduced visual acuity (HP:0001141): Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:41751)
- 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: Occasional (HP:0040283). (ORPHA:41751)
- Cystoid macular edema (HP:0011505): 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). (ORPHA:41751)
- 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: Occasional (HP:0040283). (ORPHA:41751)
- Paracentral scotoma (HP:0030528). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:41751)