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Microphthalmia, isolated, with cataract 1(MCOPCT1; CATM)

MedGen UID:
320475
Concept ID:
C1834919
Disease or Syndrome
Synonyms: Cataract, congenital, with microphthalmia; MCOPCT1
 
Monarch Initiative: MONDO:0007995
OMIM®: 156850

Clinical features

From HPO
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.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
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.

Recent clinical studies

Etiology

Daniel MC, Adams GGW, Dahlmann-Noor A
J Pediatr Ophthalmol Strabismus 2019 Jan 23;56(1):43-49. Epub 2018 Oct 26 doi: 10.3928/1081597X-20180924-01. PMID: 30371912

Diagnosis

Daniel MC, Adams GGW, Dahlmann-Noor A
J Pediatr Ophthalmol Strabismus 2019 Jan 23;56(1):43-49. Epub 2018 Oct 26 doi: 10.3928/1081597X-20180924-01. PMID: 30371912

Prognosis

Daniel MC, Adams GGW, Dahlmann-Noor A
J Pediatr Ophthalmol Strabismus 2019 Jan 23;56(1):43-49. Epub 2018 Oct 26 doi: 10.3928/1081597X-20180924-01. PMID: 30371912

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