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References OMIM Gene GeneReviews HGMD HGNC
last update : 21-09-2015
Symbol MSPKA
Location 14q24.3
Name microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Corresponding gene LTBP2
Main clinical features
  • smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes
  • congenital megalocornea with childhood secondary glaucoma from spherophakia and/or ectopia lentis
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease