microphthalmia (nanophthalmos)

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

• genetic disease of the eye
• developmental disorder

More specific terms

• 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)

Additional terms

• anophthalmia (microphthalmia 2)