Phenotypes associated with the disease Sorsby fundus dystrophy (ORPHA:59181):
- 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:59181)
- 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:59181)
- 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: Very frequent (HP:0040281). (ORPHA:59181)
- Subretinal deposits (HP:0031528): Deposits accumulating between the outer retina and the retinal pigment epithelium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:59181)
- 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: Frequent (HP:0040282). (ORPHA:59181)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:59181)
- Large central visual field defect (HP:0001129). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:59181)
- 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: Frequent (HP:0040282). (ORPHA:59181)
- Choriocapillaris atrophy (HP:0030491): Atrophy of the capillary lamina of choroid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:59181)
- Abnormal fundus autofluorescence imaging (HP:0030602): Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:59181)
- Hyporeflective spaces on macular OCT (HP:0030625). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:59181)
- Chorioretinal atrophy (HP:0000533): Atrophy (wasting) of the choroid and retinal layers of the fundus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:59181)
- 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:59181)
- 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:59181)
- Retinal atrophy (HP:0001105): 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). (ORPHA:59181)
- 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:59181)
- 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: Occasional (HP:0040283). (ORPHA:59181)