| HPO |
HP:0000488 |
Retinopathy |
"Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality." [HPO:probinson] |
— |
HP:0000479 |
| HPO |
HP:0000489 |
obsolete Abnormality of globe location or size |
— |
— |
— |
| HPO |
HP:0000490 |
Deeply set eye |
"An eye that is more deeply recessed into the plane of the face than is typical." [PMID:19125427] |
This finding should be distinguished from a prominent supraorbital ridge or inferior orbital margin. In Deeply set eyes, the globe is recessed in comparison to the overall prominence of the face. There is no known objective measurement, and diagnosing this feature depends heavily on the experience of the observer. |
HP:0100886 |
| HPO |
HP:0000491 |
Keratitis |
"Inflammation of the cornea." [HPO:curators] |
— |
HP:0011495, HP:0100533 |
| HPO |
HP:0000492 |
Abnormal eyelid morphology |
"An abnormality of the eyelids." [HPO:probinson] |
— |
HP:0030669 |
| HPO |
HP:0000493 |
Abnormal foveal morphology |
"An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina." [HPO:probinson] |
— |
HP:0001103 |
| HPO |
HP:0000494 |
Downslanted palpebral fissures |
"The palpebral fissure inclination is more than two standard deviations below the mean." [PMID:19125427] |
— |
HP:0200006 |
| HPO |
HP:0000495 |
Recurrent corneal erosions |
"The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations." [HPO:curators] |
— |
HP:0200020 |
| HPO |
HP:0000496 |
Abnormality of eye movement |
"An abnormality in voluntary or involuntary eye movements or their control." [HPO:probinson] |
— |
HP:0012373 |
| HPO |
HP:0000497 |
Globe retraction and deviation on abduction |
— |
— |
HP:0011347 |
| HPO |
HP:0000498 |
Blepharitis |
"Inflammation of the eyelids." [HPO:probinson] |
— |
HP:0000492, HP:0100533 |
| HPO |
HP:0000499 |
Abnormal eyelash morphology |
"An abnormality of the eyelashes." [HPO:probinson] |
— |
HP:0000492, HP:0001595 |
| HPO |
HP:0000501 |
Glaucoma |
"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:probinson, PMID:11815354] |
The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognised at the superior and inferior poles of the optic disc. The vertical cup:disc ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population. |
HP:0012373 |
| HPO |
HP:0000502 |
Abnormal conjunctiva morphology |
"An abnormality of the conjunctiva." [HPO:curators] |
The conjunctiva is a thin, sparsely vascularized transparent membrane that covers and protects the sclera (the bulbar conjunctiva), and forms the inner lining of the eyelids (the tarsal conjunctiva). |
HP:0030669 |
| HPO |
HP:0000503 |
Tortuosity of conjunctival vessels |
"The presence of an increased number of twists and turns of the conjunctival blood vessels." [HPO:probinson] |
— |
HP:0008054 |
| HPO |
HP:0000504 |
Abnormality of vision |
"Abnormality of eyesight (visual perception)." [HPO:probinson] |
— |
HP:0012373 |
| HPO |
HP:0000505 |
Visual impairment |
"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery." [DDD:gblack] |
— |
HP:0000504 |
| HPO |
HP:0000506 |
Telecanthus |
"Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi." [HPO:probinson] |
Dystopia canthorum (also called telecanthus) describes a subtle but unusual facial feature in which the inner corners of the eyes (canthi) are spaced farther apart than normal, yet the eyes (pupils) themselves are not necessarily widely spaced. |
HP:0000492 |
| HPO |
HP:0000508 |
Ptosis |
"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)." [PMID:19125427] |
— |
HP:0012373 |
| HPO |
HP:0000509 |
Conjunctivitis |
"Inflammation of the conjunctiva." [HPO:probinson] |
— |
HP:0000502, HP:0025337, HP:0100533 |
| HPO |
HP:0000510 |
Rod-cone dystrophy |
"An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones." [HPO:probinson, PMID:20212494] |
Retinitis pigmentosa is a group of hereditary diseases of the eye. However, the term retinitis pigmentosa has also been used to describe the retinal findings characteristic of these diseases but also seen on other diseases such as Usher syndrome. It is preferable to describe the findings precisely if possible, but this term is kept for convenience. |
HP:0000556 |
| HPO |
HP:0000511 |
Vertical supranuclear gaze palsy |
"A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal." [HPO:probinson, PMID:20671861] |
Vertical gaze palsies can manifest as selective limitation of upgaze or downgaze. |
HP:0000605 |
| HPO |
HP:0000512 |
Abnormal electroretinogram |
"Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [HPO:probinson] |
The electrical responses of the photoreceptors (rods and cones), inner retinal cells (bipolar and amacrine cells), and the ganglion cells can be assessed by ERG. |
HP:0030453 |
| HPO |
HP:0000514 |
Slow saccadic eye movements |
"An abnormally slow velocity of the saccadic eye movements." [HPO:probinson] |
Saccades are rapid eye movements that align the fovea with the target. |
HP:0000570 |
| HPO |
HP:0000517 |
Abnormality of the lens |
"An abnormality of the lens." [HPO:probinson] |
— |
HP:0004328 |