Phenotypes associated with the disease Late-onset retinal degeneration (ORPHA:67042):
- Abnormal best corrected visual acuity test (HP:0030534). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:67042)
- Chorioretinal atrophy (HP:0000533): Atrophy (wasting) of the choroid and retinal layers of the fundus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:67042)
- 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:67042)
- Macular degeneration (HP:0000608): A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:67042)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:67042)
- 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: Frequent (HP:0040282). (ORPHA:67042)
- Patchy atrophy of the retinal pigment epithelium (HP:0007791): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) that occurs in small, isolated areas. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:67042)
- 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:67042)
- 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: Frequent (HP:0040282). (ORPHA:67042)
- Subretinal deposits (HP:0031528): Deposits accumulating between the outer retina and the retinal pigment epithelium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:67042)
- Tritanomaly (HP:0000552): Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67042)
- 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:67042)
- Red-green dyschromatopsia (HP:0000642): Difficulty with discriminating red and green hues. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67042)
- Iris atrophy (HP:0001089): Loss of iris tissue (atrophy). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67042)
- Atrophic fundus lesion (HP:0001099): Well-defined or diffused area or lesion of loss of normal retinal tissue; this is often illustrated by greyish discoloration of fundus and/or better visible choroidal vasculature on funduscopy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67042)
- Abnormal anterior eye segment morphology (HP:0004328): An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67042)
- 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:67042)
- Abnormal suspensory ligament of lens morphology (HP:0012628): An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67042)
- Iris transillumination defect (HP:0012805): Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67042)
- Peripapillary atrophy (HP:0500087): Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67042)
- Ocular hypertension (HP:0007906): Intraocular pressure that is 2 standard deviations above the population mean. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:67042)
- Epiretinal membrane (HP:0100014): An epiretinal membrane is a thin sheet of fibrous tissue on the surface of the retina along the inner limiting membrane. It appears as a greyish semi-translucent avascular membrane over the internal limiting membrane (ILM) on the surface of the retina. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:67042)