cataract-microcornea syndrome

Genetics

• autosomal dominant (most cases)
• associated wth defects in CRYBB1

Clinical manifestations

• association of congenital cataract & microcornea without any other systemic anomaly or dysmorphism
• corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye
• cataract
  • most often bilateral posterior polar with opacification in the lens periphery
  • cataract progresses to form a total cataract after visual maturity has been achieved
  • cataract surgery required in the first to third decade of life
• can be associated with other rare ocular manifestations, including
  • myopia
  • iris coloboma
  • sclerocornea
  • Peters anomaly

More general terms

• genetic syndrome (multisystem disorder)
• genetic disease of the eye

Database

• OMIM: https://mirror.omim.org/entry/116150