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microphthalmia (nanophthalmos)
Abnormal smallness of eye
Clinical manifestations:
1) clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues
2) extreme hyperopia
3) small functional eyes
4) opacities of the cornea & lens, scaring of the retina & choroid, cataract may also be present
4) 80% of cases of microphthalia occur in association with syndromes that include
a) ocular colobomas
b) non-ocular abnormalities such as cardiac defects, facial clefts, microcephaly & hydrocephaly
Complications:
- a cause of congenital blindness
Related
anophthalmia (microphthalmia 2)
Specific
microphthalmia isolated type 3
microphthalmia isolated type 6
microphthalmia isolated with cataract type 2
microphthalmia isolated with cataract type 4
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 6
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)
General
genetic disease of the eye
developmental disorder
References
- Genetics HOme Reference: Microphthalmia
https://ghr.nlm.nih.gov/condition/microphthalmia
- National Eye Institute: Anophthalmia and Microphthalmia
http://www.nei.nih.gov/health/anoph/index.asp