Phenotypes associated with the disease Familial drusen (ORPHA:75376):
- Macular drusen (HP:0030499): Drusen localted in the macula. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:75376)
- 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: Obligate (HP:0040280). (ORPHA:75376)
- 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: Very frequent (HP:0040281). (ORPHA:75376)
- Macular dystrophy (HP:0007754): Macular dystrophy is a nonspecific term for retinal degeneration, generally confined to the macula, usually presumed of genetic origin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:75376)
- Reticular pigmentary degeneration (HP:0007937): A pattern of peripheral netlike retinal pigmentation that forms a polygonal arrangement of hyperpigmented lines forming geometric patterns in the fundus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:75376)
- Abnormal retinal pigmentation (HP:0007703): Any deviation from the normal pigmentation of the retina. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:75376)
- Macular hyperpigmentation (HP:0011509): Increased amount of pigmentation in the macula. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:75376)
- Metamorphopsia (HP:0012508): A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:75376)
- Perifoveal ring of hyperautofluorescence (HP:0030629). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:75376)
- Hyperautofluorescent macular lesion (HP:0030631): Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:75376)
- Hypoautofluorescent macular lesion (HP:0030632): Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:75376)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:75376)
- 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: Occasional (HP:0040283). (ORPHA:75376)
- Granular macular appearance (HP:0007793): Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:75376)
- Peripapillary chorioretinal atrophy (HP:0007950): Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:75376)
- Choroidal neovascularization (HP:0011506): Choroidal neovascularization (CNV) is the inward growth of new blood vessels arising from the choriocapillaris. Depending on the stage of development, they can be external (type 1 NV) or internal (type 2 NV) to the retinal pigment epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:75376)
- Serous retinal detachment (HP:0012231): A type of retinal detachment such that fluid is present in the subretinal space and separate the neurosensory retina from the retinal pigment epithelium. It is not associated with a full-thickness break nor a tractional component. Due to breakdown of outer blood-retina barrier or increased exudation from abnormal vasculature or defective outflow. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:75376)
- Macular hemorrhage (HP:0025574): Bleeding occurring within the macula lutea of the retina. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:75376)
- Paracentral scotoma (HP:0030528). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:75376)
- Subretinal fluid (HP:0031526): Fluid accumulating between the neuroretina and retinal pigment epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:75376)