- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:71213)
- Retinal capillary hemangioma (HP:0009711): A benign vascular tumor of the retina without any neoplastic characteristics. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:71213)
- 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:71213)
- Progressive visual loss (HP:0000529): A reduction of previously attained ability to see. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71213)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71213)
- 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:71213)
- Blurred vision (HP:0000622): Lack of sharpness of vision resulting in the inability to see fine detail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71213)
- Amblyopia (HP:0000646): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71213)
- Retinal exudate (HP:0001147): Yellow-white intraretinal deposits in the retina typically associated with damaged inner blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71213)
- Vitreous hemorrhage (HP:0007902): Bleeding within the vitreous compartment of the eye. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71213)
- Retinal microaneurysm (HP:0032416): A localized dilation or outpouching of microvasculature formed due to disruption of the vessel wall of a retinal capillary blood vessel. The lesions present as small red dots with distinct margins and are not larger than a blood vessel width at the disk margin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71213)
- Subretinal exudate (HP:0011532): A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71213)
- Hyphema (HP:0011886): Bleeding in the anterior chamber of the eye. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71213)
- Pain (HP:0012531): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71213)
- Anisometropia (HP:0012803): Inequality of refractive power of the two eyes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71213)
- Paracentral scotoma (HP:0030528). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71213)
- Photopsia (HP:0030786): Perceived flashes of light. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:71213)
- 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: Occasional (HP:0040283). (ORPHA:71213)
- 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:71213)
These phenotypes are associated with the disease Retinal capillary malformation (ORPHA:71213).