From HPO
Uveitis- MedGen UID:
- 52961
- •Concept ID:
- C0042164
- •
- Disease or Syndrome
Inflammation of one or all portions of the uveal tract.
Corneal opacity- MedGen UID:
- 40485
- •Concept ID:
- C0010038
- •
- Finding
A reduction of corneal clarity.
Esotropia- MedGen UID:
- 4550
- •Concept ID:
- C0014877
- •
- Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
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.
Hyphema- MedGen UID:
- 9379
- •Concept ID:
- C0020581
- •
- Pathologic Function
Bleeding in the anterior chamber of the eye.
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.
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.
Posterior synechiae of the anterior chamber- MedGen UID:
- 488784
- •Concept ID:
- C0152253
- •
- Disease or Syndrome
Adhesions between the iris and the lens.
Leukocoria- MedGen UID:
- 57540
- •Concept ID:
- C0152458
- •
- Disease or Syndrome
An abnormal white reflection from the pupil rather than the usual black reflection.
Retinal fold- MedGen UID:
- 115826
- •Concept ID:
- C0229197
- •
- Finding
A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.
Iris coloboma- MedGen UID:
- 116097
- •Concept ID:
- C0240063
- •
- Anatomical Abnormality
A coloboma of the iris.
Microcornea- MedGen UID:
- 78610
- •Concept ID:
- C0266544
- •
- Congenital Abnormality
A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Persistent hyperplastic primary vitreous- MedGen UID:
- 120583
- •Concept ID:
- C0266568
- •
- Congenital Abnormality
Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.
Phthisis bulbi- MedGen UID:
- 124382
- •Concept ID:
- C0271007
- •
- Finding
Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.
Pendular nystagmus- MedGen UID:
- 78770
- •Concept ID:
- C0271388
- •
- Disease or Syndrome
Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.
Persistent pupillary membrane- MedGen UID:
- 138009
- •Concept ID:
- C0344541
- •
- Congenital Abnormality
The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.
Shallow anterior chamber- MedGen UID:
- 602215
- •Concept ID:
- C0423276
- •
- Finding
Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.
Retinal nonattachment- MedGen UID:
- 867205
- •Concept ID:
- C4021563
- •
- Congenital Abnormality
Failure of attachment of the retina during development.
Buphthalmos- MedGen UID:
- 1641795
- •Concept ID:
- C4551507
- •
- Congenital Abnormality
Diffusely large eye (with megalocornea) associated with glaucoma.
Ultra-low vision with no light perception- MedGen UID:
- 1693914
- •Concept ID:
- C5139244
- •
- Finding
Ultra-low vision with complete lack of light and form perception.
- Abnormality of the eye
- Abnormality of the immune system