syndromic microphthalmia 5

Genetics

• associated with defects in OTX2

Clinical manifestations

• unilateral or bilateral microphthalmia/clinical anophthalmia
• variable additional features including:
  • coloboma
  • microcornea
  • cataracts
  • retinal dystrophy
  • hypoplasia or agenesis of the optic nerve
  • agenesis of the corpus callosum
  • developmental delay
  • joint laxity
  • hypotonia
  • seizures

More general terms

• genetic syndrome (multisystem disorder)
• microphthalmia (nanophthalmos)

Database

• OMIM: https://mirror.omim.org/entry/610125