- Attenuation of retinal blood vessels (HP:0007843): Narrowing of the retinal blood vessels, both arterioles and venules. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:179)
- Macular hole (HP:0011508): A macular hole is a full thickness gap in the macula, located in the center of the retina. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:179)
- 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: Frequent (HP:0040282). (ORPHA:179)
- Blind-spot enlargement (HP:0030644). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:179)
- 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: Frequent (HP:0040282). (ORPHA:179)
- Inflammatory abnormality of the eye (HP:0100533): Inflammation of the eye, parts of the eye or the periorbital region. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:179)
- Vitreous floaters (HP:0100832): Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:179)
- Macular scar (HP:0200056): Fibrous connective tissue consequent upon healing of a wound (i.e., a scar) located in the macula. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:179)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:179)
- 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:179)
- Arcuate scotoma (HP:0030530). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:179)
- Abnormal chorioretinal morphology (HP:0000532): An abnormality of the choroid and retina. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:179)
- 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:179)
- 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: Very frequent (HP:0040281). (ORPHA:179)
- Ocular hypertension (HP:0007906): Intraocular pressure that is 2 standard deviations above the population mean. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:179)
- Abnormal retinal vascular morphology (HP:0008046): A structural abnormality of retinal vasculature. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:179)
- 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: Very frequent (HP:0040281). (ORPHA:179)
- Vitritis (HP:0011531): Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:179)
- Photoreceptor layer loss on macular OCT (HP:0030609): Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:179)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:179)
- Optic disc pallor (HP:0000543): A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:179)
- 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: Frequent (HP:0040282). (ORPHA:179)
- Blurred vision (HP:0000622): Lack of sharpness of vision resulting in the inability to see fine detail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:179)
These phenotypes are associated with the disease Birdshot chorioretinopathy (ORPHA:179).