Phenotypes associated with the disease Eales disease (ORPHA:40923):
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40923)
- Vitreous hemorrhage (HP:0007902): Bleeding within the vitreous compartment of the eye. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40923)
- Retinal vasculitis (HP:0025188): Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion. It can affect veins, arteries or both. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:40923)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:40923)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:40923)
- 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: Occasional (HP:0040283). (ORPHA:40923)
- 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:40923)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:40923)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:40923)
- Spastic paraparesis (HP:0002313): Partial loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:40923)
- Multifocal cerebral white matter abnormalities (HP:0007052). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:40923)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:40923)
- Tractional retinal detachment (HP:0007917): A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes, in the absence of a full-thickness retinal defect. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:40923)
- Rubeosis iridis (HP:0011497): Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:40923)
- 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: Occasional (HP:0040283). (ORPHA:40923)
- 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: Occasional (HP:0040283). (ORPHA:40923)
- Anterior uveitis (HP:0012122): Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:40923)
- Rhegmatogenous retinal detachment (HP:0012230): A type of retinal detachment associated with a full-thickness defect in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:40923)
- 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: Occasional (HP:0040283). (ORPHA:40923)
- Vitreous haze (HP:0030652): Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:40923)
- Peripheral retinal neovascularization (HP:0030667): A type of retinal neovascularization that affects the periphery of the retina. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:40923)
- Internuclear ophthalmoplegia (HP:0030773): An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:40923)
- Photopsia (HP:0030786): Perceived flashes of light. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:40923)
- Macular edema (HP:0040049): 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. It can either have a cystoid aspect in the fovea, or a more diffuse aspect. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:40923)
- 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: Occasional (HP:0040283). (ORPHA:40923)
- Ischemic stroke (HP:0002140): Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:40923)
- Myelopathy (HP:0002196): Myelopathy is an descriptive term, referring to pathology leading to a neurologic deficit related to the spinal cord. The clinical diagnosis of myelopathy requires a detailed history and physical examination to define the clinical syndrome. Neuroimaging is indicated in most instances of new-onset myelopathy. It is indicated also when the worsening of a myelopathy is unexplained. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:40923)
- Transient ischemic attack (HP:0002326). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:40923)
- Preretinal hemorrhage (HP:0025240): An accumulation of blood that is located between the retina and the detached posterior hyaloid, or in the vitreous cavity. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:40923)
- 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:40923)