| HPO |
HP:0000605 |
Supranuclear gaze palsy |
"A supranuclear gaze palsy is an inability to look in a particular 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] |
— |
HP:0000549 |
| HPO |
HP:0000606 |
Abnormality of the periorbital region |
"An abnormality of the region situated around the orbit of the eye." [HPO:probinson] |
— |
HP:0000271 |
| HPO |
HP:0000607 |
Periorbital wrinkles |
— |
— |
HP:0000606, HP:0100678 |
| HPO |
HP:0000608 |
Macular degeneration |
"A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea." [HPO:probinson, ORCID:0000-0003-0986-4123] |
— |
HP:0000546, HP:0001103 |
| HPO |
HP:0000609 |
Optic nerve hypoplasia |
"Underdevelopment of the optic nerve." [HPO:probinson] |
— |
HP:0002977, HP:0008058 |
| HPO |
HP:0000610 |
Abnormal choroid morphology |
"Any structural abnormality of the choroid." [HPO:probinson] |
— |
HP:0000553, HP:0001098 |
| HPO |
HP:0000611 |
obsolete Choroid coloboma |
— |
— |
— |
| HPO |
HP:0000612 |
Iris coloboma |
"A coloboma of the iris." [HPO:probinson, PMID:19369671] |
— |
HP:0000525, HP:0000589 |
| HPO |
HP:0000613 |
Photophobia |
"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:probinson] |
Note that the term photodysphoria is used to describe extreme photophobia. |
HP:0000504, HP:0000708 |
| HPO |
HP:0000614 |
Abnormal nasolacrimal system morphology |
"An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity." [DDD:ncarter] |
The nasolacrimal system consists of the puncta, canaliculi, lacrimal sac, and nasolacrimal duct. |
HP:0030669 |
| HPO |
HP:0000615 |
Abnormal pupil morphology |
"An abnormality of the pupil." [HPO:probinson] |
— |
HP:0000525 |
| HPO |
HP:0000616 |
Miosis |
"Abnormal (non-physiological) constriction of the pupil." [HPO:probinson] |
— |
HP:0007686 |
| HPO |
HP:0000617 |
Abnormality of ocular smooth pursuit |
"An abnormality of eye movement characterized by impaired smooth-pursuit eye movements." [HPO:probinson] |
Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target. Slow-pursuit eye movements are involved in tracking a slowly moving target after the saccadic system has placed the image of the target on the fovea. |
HP:0000496 |
| HPO |
HP:0000618 |
Blindness |
"Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation." [DDD:gblack, PMID:28779882] |
Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source. |
HP:0007663 |
| HPO |
HP:0000619 |
Impaired convergence |
"Reduced ability to turn the eyes inward in order to focus on a nearby object." [HPO:probinson] |
Vergence alters the angle between the two eyes to adjust for changes in distance from the visual target. |
HP:0000549 |
| HPO |
HP:0000620 |
Dacryocystitis |
"Inflammation of the nasolacrimal sac." [HPO:probinson] |
Dacrocystitis is frequently caused by nasolacrimal duct obstruction or infection, which often results from stagnation of tears in a pathologically closed lacrimal drainage system. Note also that dacryocystistis has often been misspelled as dacrocystitis in the literature, but the correct spelling is dacryocystitis. |
HP:0000614 |
| HPO |
HP:0000621 |
Entropion |
"An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital." [ORCID:0000-0003-0986-4123, PMID:19125427] |
The inward turned eyelid margin increases the potential for mechanical irritation of the eye by eyelashes. Entropion is to be distinguished from epiblepharon. |
HP:0000492 |
| HPO |
HP:0000622 |
Blurred vision |
"Lack of sharpness of vision resulting in the inability to see fine detail." [HPO:probinson] |
This is a very nonspecific term and it is preferable to describe the correlates of blurred vision with the corresponding terms if possible. |
HP:0000504 |
| HPO |
HP:0000623 |
Supranuclear ophthalmoplegia |
"A vertical gaze palsy with inability to direct the gaze of the eyes downwards." [HPO:probinson, PMID:20629667] |
— |
HP:0000602 |
| HPO |
HP:0000625 |
Eyelid coloboma |
"A short discontinuity of the margin of the lower or upper eyelid." [PMID:19125427] |
The lateral segment of the lower eyelid is most commonly involved. As the milder forms of this finding are clearly subjective and no boundary of subjective and objective is defined, the term is considered subjective. The term eyelid coloboma has been replaced because the word coloboma should be used only for defects at the site of fusion of embryologic structures, which is not the case here. Modifiers to designate the location of the cleft may be added, such as lower and lateral. |
HP:0011226 |
| HPO |
HP:0000627 |
Posterior embryotoxon |
"A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe." [HPO:probinson] |
Schwalbe's line is the anatomical line found on the interior surface of the cornea, and delineates the outer limit of the corneal endothelium layer. Specifically, it represents the termination of Descemet's membrane. Up to 30% of the population has posterior embryotoxon as an isolated normal variant. |
HP:0008048 |
| HPO |
HP:0000629 |
Periorbital fullness |
"Increase in periorbital soft tissue." [HPO:sdoelken] |
— |
HP:0000606 |
| HPO |
HP:0000630 |
Abnormal retinal artery morphology |
— |
— |
HP:0008046, HP:0011004, HP:3000036 |
| HPO |
HP:0000631 |
Retinal arterial tortuosity |
"The presence of an increased number of twists and turns of the retinal artery." [HPO:probinson] |
— |
HP:0000630, HP:0005116, HP:0012841 |
| HPO |
HP:0000632 |
Lacrimation abnormality |
"Abnormality of tear production." [HPO:probinson] |
— |
HP:0012373 |