| HPO |
HP:0000546 |
Retinal degeneration |
"A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells." [HPO:probinson, ORCID:0000-0003-0986-4123] |
— |
HP:0000479 |
| HPO |
HP:0000547 |
obsolete Tapetoretinal degeneration |
— |
— |
— |
| HPO |
HP:0000548 |
Cone/cone-rod dystrophy |
— |
— |
HP:0000556 |
| HPO |
HP:0000549 |
Abnormal conjugate eye movement |
"Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object." [HPO:probinson] |
— |
HP:0000496 |
| HPO |
HP:0000550 |
Undetectable electroretinogram |
"Lack of any response to stimulation upon electroretinography." [HPO:probinson] |
— |
HP:0000512 |
| HPO |
HP:0000551 |
Color vision defect |
"An anomaly in the ability to discriminate between or recognize colors." [HPO:probinson] |
— |
HP:0000504 |
| HPO |
HP:0000552 |
Tritanomaly |
"Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment." [HPO:probinson] |
— |
HP:0011519 |
| HPO |
HP:0000553 |
Abnormal uvea morphology |
"An abnormality of the uvea, the vascular layer of the eyeball." [HPO:probinson] |
— |
HP:0012372 |
| HPO |
HP:0000554 |
Uveitis |
"Inflammation of one or all portions of the uveal tract." [HPO:curators] |
The uvea is the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. |
HP:0000553, HP:0100533 |
| HPO |
HP:0000555 |
Leukocoria |
"An abnormal white reflection from the pupil rather than the usual black reflection." [HPO:probinson] |
The word leukocoria literally means white pupil, but leukocoria is not an abnormality of the pupil. Rather, leukocoria can be caused by cataract, retinal detachment, retinopathy of prematurity, retinal malformation, endophthalmitis, retinal vascular abnormality, and intraocular tumor (e.g., retinoblastoma). |
HP:0000615 |
| HPO |
HP:0000556 |
Retinal dystrophy |
"Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event." [ORCID:0000-0003-0986-4123] |
— |
HP:0000479 |
| HPO |
HP:0000557 |
Buphthalmos |
"Diffusely large eye (with megalocornea) associated with glaucoma." [] |
Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek 'bous' or ox and 'ophthalmos' or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched. |
HP:0001087, HP:0001090 |
| HPO |
HP:0000558 |
Rieger anomaly |
"A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities." [HPO:probinson] |
Hypoplasia (underdevelopment) of the iris as well as iris strands to the peripheral cornea. |
HP:0007676 |
| HPO |
HP:0000559 |
Corneal scarring |
— |
— |
HP:0007957, HP:0100699 |
| HPO |
HP:0000561 |
Absent eyelashes |
"Lack of eyelashes." [HPO:curators, PMID:19125427] |
Often this finding is congenital and associated with alopecia universalis, but this should be coded separately. |
HP:0002550, HP:0200102 |
| HPO |
HP:0000563 |
Keratoconus |
"A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex." [HPO:probinson, PMID:7767020] |
Keratoconus is an entity characterid by several phenotypic findings such as corneal distortion (secondary to thinning of the apex) and either Fleischer's ring or Vogt's striae. This HPO term intends to denote the finding of corneal distortion and bulge. |
HP:0100689, HP:0100692 |
| HPO |
HP:0000564 |
Lacrimal duct atresia |
"A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct." [HPO:probinson] |
— |
HP:0011481 |
| HPO |
HP:0000565 |
Esotropia |
"A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more." [HPO:probinson] |
Esotropia is analogous to but more severe thatn esophoria. Affected children are more likely to have amblyopia or require corrective eye muscle surgery than children with esophoria. |
HP:0020045, HP:0032012 |
| HPO |
HP:0000567 |
Chorioretinal coloboma |
"Absence of a region of the retina, retinal pigment epithelium, and choroid." [HPO:probinson] |
— |
HP:0000532, HP:0000589 |
| HPO |
HP:0000568 |
Microphthalmia |
"A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:probinson] |
— |
HP:0008056, HP:0100887 |
| HPO |
HP:0000570 |
Abnormal saccadic eye movements |
"An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements." [HPO:probinson] |
Fast (saccadic) eye movements comprise voluntary or involuntary refixation movements, the fast phase of vestibular nystagmus, optokinetic nystagmus, and microsaccades. |
HP:0000496 |
| HPO |
HP:0000571 |
Hypometric saccades |
"Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object." [HPO:probinson, PMID:572501] |
— |
HP:0000570 |
| HPO |
HP:0000572 |
Visual loss |
"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that)." [HPO:sdoelken] |
— |
HP:0000505 |
| HPO |
HP:0000573 |
Retinal hemorrhage |
"Hemorrhage occurring within the retina." [HPO:gcarletti] |
The type of retinal hemorrhage and its clinical appearance depends on its location within the retina. |
HP:0000479, HP:0011885, HP:0031803 |
| HPO |
HP:0000574 |
Thick eyebrow |
"Increased density/number and/or increased diameter of eyebrow hairs." [PMID:19125427] |
Thickness can be regional (medial, middle/central, lateral) or total. |
HP:0000534 |