Microphthalmia
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Contents |
More Specific Terms
- anophthalmia (microphthalmia 2)
- microphthalmia isolated type 3
- microphthalmia isolated with cataract type 2
- microphthalmia with associated anomalies 2; anophthalmia with associated anomalies
- microphthalmia with cataracts & iris abnormalities
- microphthalmia with coloboma 3
- microphthalmia with coloboma 5
- nanophthalmos 2
- syndromic microphthalmia 3
- syndromic microphthalmia 5
- syndromic microphthalmia 7 (MCOPS7); microphthalmia with linear skin defects; microphthalmia, dermal aplasia & sclerocornea [MIDAS] syndrome
- syndromic microphthalmia 8
- syndromic microphthalmia 9 (Spear syndrome, Matthew-Wood syndrome)
Introduction
- Abnormal smallness of eye
Clinical-manifestations
- clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues
- extreme hyperopia
- small functional eyes
- opacities of the cornea & lens, scaring of the retina & choroid, cataract may also be present
- 80% of cases of microphthalia occur in association with syndromes that include
- ocular colobomas
- non-ocular abnormalities such as cardiac defects, facial clefts, microcephaly & hydrocephaly
Complications
- a cause of congenital blindness
More General Terms
Additional Terms
- anophthalmia (microphthalmia 2)
- microphthalmia with associated anomalies 2; anophthalmia with associated anomalies
- microphthalmia with cataracts & iris abnormalities
- microphthalmia with coloboma 3
- microphthalmia with coloboma 5
- nanophthalmos 2
- syndromic microphthalmia 5
- syndromic microphthalmia 7 (MCOPS7); microphthalmia with linear skin defects; microphthalmia, dermal aplasia & sclerocornea [MIDAS] syndrome
- syndromic microphthalmia 9 (Spear syndrome, Matthew-Wood syndrome)
References
- Anophthalmia and Microphthalmia: NIH Institute and Center Resources [1]
- National Eye Institute: Anophthalmia and Microphthalmia [2]
