| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000501 | Glaucoma | "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators] |
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| HP:0000505 | Impaired vision | |
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| HP:0000510 | Retinitis pigmentosa | "Hereditary degeneration and atrophy of the retina." [HPO:curators] |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000540 | Hypermetropia | |
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| HP:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
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| HP:0000610 | Abnormality of the choroid | |
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| HP:0000613 | Photophobia | "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators] |
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| HP:0000662 | Night blindness | |
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| HP:0001000 | Abnormality of skin pigmentation | |
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| HP:0007663 | Decreased central vision | |
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| HP:0007703 | Abnormal retinal pigmentation | |
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| HP:0007722 | Loss of retinal pigment epithelium | |
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| HP:0007737 | Bony spicule pigmentary retinopathy | |
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| HP:0008323 | Abnormal rod and cone electroretinograms | |
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| HP:0008499 | High-grade hypermetropia | |
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| HP:0011505 | Cystoid macular edema | "Cystoid macular edema (CME) is any type of macular edema that involves cyst formation." [DDD:ncarter] |
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| HP:0012152 | Foveoschisis | "Splitting of the retinal layers in the macula." [HPO:probinson] |
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| HP:0012426 | Optic disc drusen | "Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve." [HPO:probinson, pmid:22787500, pmid:23658477] |
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| HP:0030823 | Scleral thickening | "Increased dimension of the sclera in the anterior-posterior axis." [HPO:probinson] |
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