| 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:0000493 | Abnormality of the fovea | |
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| HP:0000505 | Impaired vision | |
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| HP:0000512 | Abnormal electroretinogram | "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [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:0000551 | Abnormal color vision | |
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| HP:0000577 | Exotropia | |
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| HP:0000603 | Central scotoma | |
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| HP:0000608 | Macular degeneration | |
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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:0000649 | Abnormality of vision evoked potentials | |
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| HP:0000662 | Night blindness | |
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| HP:0001141 | Severe visual impairment | |
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| HP:0007641 | Secondary dyschromatopsia | |
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| HP:0007663 | Decreased central vision | |
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| HP:0007703 | Abnormal retinal pigmentation | |
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| HP:0007704 | Abnormal eye movements, paroxysmal | |
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| HP:0007722 | Loss of retinal pigment epithelium | |
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| HP:0007750 | Foveal hypoplasia | |
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| HP:0007793 | Bilateral macular retinal pigment epithelial mottling | |
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| HP:0007803 | Congenital complete achromatopsia | |
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| HP:0007811 | Horizontal pendular nystagmus | "Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity." [HPO:curators] |
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| HP:0007814 | Salt and pepper retinopathy, early | |
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| HP:0007843 | Attenuation of retinal blood vessels | |
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| HP:0007939 | Almost complete colorblindness except ability to see blue | |
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| HP:0008002 | Macular pigmentary changes | |
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| HP:0008035 | Retinitis pigmentosa inversa | |
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| HP:0008059 | Aplasia/Hypoplasia of the macula | |
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| HP:0011003 | Severe Myopia | |
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| HP:0011504 | Bull s eye maculopathy | "Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation." [DDD:gblack] |
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| HP:0011516 | Rod monochromacy | "A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult." [DDD:gblack] |
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| HP:0012043 | Pendular nystagmus | "Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction." [HPO:probinson] |
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| HP:0030329 | Retinal thinning | "Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT)." [HPO:probinson] |
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| HP:0030500 | Yellow/white lesions of the macula | |
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