- Remnants of the hyaloid vascular system (HP:0007968): Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:91495)
- 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: Very frequent (HP:0040281). (ORPHA:91495)
- Leukocoria (HP:0000555): An abnormal white reflection from the pupil rather than the usual black reflection. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:91495)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:91495)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:91495)
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:91495)
- Developmental cataract (HP:0000519): A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91495)
- 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: Frequent (HP:0040282). (ORPHA:91495)
- Persistent pupillary membrane (HP:0009917): The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91495)
- Angle closure glaucoma (HP:0012109): A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91495)
- Glial remnants anterior to the optic disc (HP:0030743): Persistence of a posterior remnant of the hyaloid artery located at the optic disc. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91495)
- Hyaloid vascular remnant and retrolental mass (HP:0030744): A type of persistence of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91495)
- Microcornea (HP:0000482): A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91495)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91495)
- Buphthalmos (HP:0000557): Diffusely large eye (with megalocornea) associated with glaucoma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91495)
- Shallow anterior chamber (HP:0000594): Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91495)
- 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:91495)
- 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:91495)
- Phthisis bulbi (HP:0000667): Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91495)
- Macular hypoplasia (HP:0001104): Underdevelopment of the macula lutea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91495)
- Retinal fold (HP:0008052): A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91495)
- Epiphora (HP:0009926): Abnormally increased lacrimation, that is, excessive tearing (watering eye). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91495)
- Hemorrhage of the eye (HP:0011885): Bleeding from vessels of the various tissues of the eye. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91495)
- Ectopic calcification (HP:0010766): Deposition of calcium salts in a tissue or location in which calcification does not normally occur. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:91495)
These phenotypes are associated with the disease Persistent hyperplastic primary vitreous (ORPHA:91495).