From HPO
Corneal scarring- MedGen UID:
- 83899
- •Concept ID:
- C0349702
- •
- Finding
Replacement of corneal tissue with scar tissue as a result of injury to the deeper layers of the cornea.
Glaucoma- MedGen UID:
- 42224
- •Concept ID:
- C0017601
- •
- Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Microphthalmia- MedGen UID:
- 10033
- •Concept ID:
- C0026010
- •
- Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Miosis- MedGen UID:
- 6409
- •Concept ID:
- C0026205
- •
- Disease or Syndrome
Abnormal (non-physiological) constriction of the pupil.
Nystagmus- MedGen UID:
- 45166
- •Concept ID:
- C0028738
- •
- Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Retinal detachment- MedGen UID:
- 19759
- •Concept ID:
- C0035305
- •
- Disease or Syndrome
Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).
Cataract- MedGen UID:
- 39462
- •Concept ID:
- C0086543
- •
- Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Iris coloboma- MedGen UID:
- 116097
- •Concept ID:
- C0240063
- •
- Anatomical Abnormality
A coloboma of the iris.
Chorioretinal coloboma- MedGen UID:
- 66820
- •Concept ID:
- C0240896
- •
- Congenital Abnormality
Absence of a region of the retina, retinal pigment epithelium, and choroid.
Horizontal nystagmus- MedGen UID:
- 124399
- •Concept ID:
- C0271385
- •
- Disease or Syndrome
Nystagmus consisting of horizontal to-and-fro eye movements.
Macular atrophy- MedGen UID:
- 140841
- •Concept ID:
- C0423421
- •
- Finding
Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
Retinal dystrophy- MedGen UID:
- 208903
- •Concept ID:
- C0854723
- •
- Finding
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.
Buphthalmos- MedGen UID:
- 1641795
- •Concept ID:
- C4551507
- •
- Congenital Abnormality
Diffusely large eye (with megalocornea) associated with glaucoma.
- Abnormality of the eye
- Abnormality of the musculoskeletal system