Phenotypes associated with the disease Central areolar choroidal dystrophy (ORPHA:75377):
- Hyperautofluorescent macular lesion (HP:0030631): Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:75377)
- Full-thickness macular hole (HP:0031152): Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:75377)
- 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:75377)
- 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: Frequent (HP:0040282). (ORPHA:75377)
- Macular atrophy (HP:0007401): 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: Frequent (HP:0040282). (ORPHA:75377)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:75377)
- Fundus hypopigmentation (HP:0007894): Generalized or focal reduced pigmentation of the fundus, evaluated in the context of skin and hair color. Fundoscopy may reveal a low level pigment. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:75377)
- Slow decrease in visual acuity (HP:0007924). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:75377)
- Foveal photoreceptor outer segment loss on macular OCT (HP:0030615). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:75377)
- Chorioretinal atrophy (HP:0000533): Atrophy (wasting) of the choroid and retinal layers of the fundus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:75377)
- 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:75377)
- Absent retinal pigment epithelium (HP:0007980): Discrete areas of pallor in which the pigment epithelium, choriocapillaris and choroidal pigment are absent. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:75377)
- Drusen (HP:0011510): Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in the Bruch membrane of the eye. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:75377)
- Choriocapillaris atrophy (HP:0030491): Atrophy of the capillary lamina of choroid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:75377)
- Perifoveal ring of hyperautofluorescence (HP:0030629). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:75377)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:75377)
- Dyschromatopsia (HP:0007641): A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:75377)