Phenotypes associated with the disease Isolated aniridia (ORPHA:250923):
- Aniridia (HP:0000526): Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:250923)
- 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:250923)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:250923)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:250923)
- Hypoplasia of the iris (HP:0007676): Congenital underdevelopment of the iris. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:250923)
- Hypoplasia of the fovea (HP:0007750): Underdevelopment of the fovea centralis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:250923)
- Aplasia/Hypoplasia of the macula (HP:0008059). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:250923)
- 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: Frequent (HP:0040282). (ORPHA:250923)
- 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: Frequent (HP:0040282). (ORPHA:250923)
- 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:250923)
- Red-green dyschromatopsia (HP:0000642): Difficulty with discriminating red and green hues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:250923)
- Peters anomaly (HP:0000659): A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:250923)
- Ectopia lentis (HP:0001083): Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:250923)
- Keratoconjunctivitis sicca (HP:0001097): Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:250923)
- Fundus hypopigmentation (HP:0007894): Generalized or focal reduced pigmentation of the fundus, evaluated in the context of skin and hair color. Fundoscopy may reveal a low level pigment. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:250923)
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:250923)
- Corneal neovascularization (HP:0011496): Ingrowth of new blood vessels into the cornea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:250923)
- Abnormal full-field electroretinogram (HP:0030466): An anomaly observed by full-field electroretinogram (ffERG). The ffERG measures the light-induced electrical activity of the retina at the corneal surface. Specifically, the ffERG records the global or total retinal electrical response to a full-field (Ganzfield) light stimulus. Isolation of the rod and cone components has important diagnostic value in differentiating between various retinal diseases. Modifying the properties of the light-stimulus (wavelength, strength, and flicker rate) as well as the adaptive state of the retina can separate the rod and cone functions of the ffERG. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:250923)
- Abnormal multifocal electroretinogram (HP:0030468). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:250923)
- Abnormal foveal pit on macular OCT (HP:0030622). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:250923)
- Limbal stem cell deficiency (HP:0032107): A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:250923)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:250923)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:250923)
- Optic nerve hypoplasia (HP:0000609): Underdevelopment of the optic nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:250923)
- 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:250923)
- Microspherophakia (HP:0030961): Microspherophakia is a rare congenital anomaly characterized by the abnormal spherical shape of the crystalline lens. It is characterized by an increased anteroposterior thickness of the lens associated with reduced equatorial diameter. The primary pathology lies in the development of zonules. The condition is often bilateral and is characterized by small, thick, and spherical lenses. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:250923)
- Lens coloboma (HP:0100719): A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:250923)