| HPO |
HP:0000633 |
Decreased lacrimation |
"Abnormally decreased lacrimation, that is, reduced ability to produce tears." [HPO:probinson] |
— |
HP:0000632 |
| HPO |
HP:0000634 |
Impaired ocular abduction |
"An impaired ability of the eye to move in the outward direction (towards the side of the head)." [HPO:probinson] |
— |
HP:0011347 |
| HPO |
HP:0000635 |
Blue irides |
"A markedly blue coloration of the iris." [HPO:probinson] |
— |
HP:0008034 |
| HPO |
HP:0000636 |
Upper eyelid coloboma |
"A short discontinuity of the margin of the upper eyelid." [HPO:probinson] |
— |
HP:0000625 |
| HPO |
HP:0000637 |
Long palpebral fissure |
"Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures." [PMID:19125427] |
— |
HP:0200007 |
| HPO |
HP:0000639 |
Nystagmus |
"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
— |
HP:0012547 |
| HPO |
HP:0000640 |
Gaze-evoked nystagmus |
"Nystagmus made apparent by looking to the right or to the left." [HPO:curators] |
— |
HP:0000639 |
| HPO |
HP:0000641 |
Dysmetric saccades |
"The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results." [HPO:probinson, PMID:572501] |
— |
HP:0000570 |
| HPO |
HP:0000642 |
Red-green dyschromatopsia |
"Difficulty with discriminating red and green hues." [DDD:gblack] |
— |
HP:0007641 |
| HPO |
HP:0000643 |
Blepharospasm |
"A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids." [HPO:probinson] |
— |
HP:0012179, HP:0031879 |
| HPO |
HP:0000646 |
Amblyopia |
"Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways." [HPO:probinson] |
Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes. |
HP:0007663 |
| HPO |
HP:0000647 |
Sclerocornea |
"A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea." [HPO:probinson] |
— |
HP:0007957 |
| HPO |
HP:0000648 |
Optic atrophy |
"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy." [HPO:probinson] |
The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischaemic optic neuropathy or a compressive lesion. |
HP:0012795 |
| HPO |
HP:0000649 |
Abnormality of visual evoked potentials |
"An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex." [HPO:probinson, PMID:19826847] |
The terms visually evoked potential (VEP), visually evoked response (VER) and visually evoked cortical potential (VECP) are equivalent. |
HP:0030453 |
| HPO |
HP:0000650 |
Abnormal amplitude of pattern reversal visual evoked potentials |
— |
— |
HP:0100289 |
| HPO |
HP:0000651 |
Diplopia |
"Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision." [HPO:probinson] |
— |
HP:0011514 |
| HPO |
HP:0000652 |
Lower eyelid coloboma |
"A short discontinuity of the margin of the lower eyelid." [HPO:probinson] |
— |
HP:0000625 |
| HPO |
HP:0000653 |
Sparse eyelashes |
"Decreased density/number of eyelashes." [PMID:19125427] |
— |
HP:0008070, HP:0200102 |
| HPO |
HP:0000654 |
Decreased light- and dark-adapted electroretinogram amplitude |
"Descreased amplitude of eletrical response upon electroretinography." [HPO:probinson] |
— |
HP:0008323 |
| HPO |
HP:0000655 |
obsolete Vitreoretinal degeneration |
— |
— |
— |
| HPO |
HP:0000656 |
Ectropion |
"An outward turning (eversion) or rotation of the eyelid margin." [PMID:19125427] |
Ectropion is frequently associated wit overexposure of the palpebral and scleral conjunctiva and cornea. It usually involves the lower eyelid. |
HP:0000492 |
| HPO |
HP:0000657 |
Oculomotor apraxia |
"Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex." [HPO:probinson, PMID:20615230] |
Oculomotor apraxia leads defective or absent horizontal voluntary eye movements with head thrusting to look at objects to the side as well as jerky, abnormal eye movements. |
HP:0000496, HP:0002186 |
| HPO |
HP:0000658 |
Eyelid apraxia |
— |
— |
HP:0002186, HP:0031879 |
| HPO |
HP:0000659 |
Peters anomaly |
"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." [HPO:probinson] |
— |
HP:0007700 |
| HPO |
HP:0000660 |
Lipemia retinalis |
"A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature." [PMID:10379021, PMID:16120862] |
Lipemia retinalis is thought to be directly correlated with the serum triglyceride level; typically, the retinal findings do not occur until the triglyceride level reaches 2500 mg per deciliter (28.2 mmol per liter). |
HP:0008046 |