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GENATLAS PHENOTYPE
last update : 06-03-2009
Symbol RGDC
Location 4q25
Name ring dermoid of the cornea
Corresponding gene PITX2
Other symbol(s) RDC
Main clinical features
  • bilateral annular limbal dermoids with corneal and conjunctival extensions
  • yellow-white tumor-like apophyses on the corneal border of both eyes
  • choristomas involved the limbus for 360 degrees, extended anteriorly onto the cornea, and extended posteriorly about 5 mm within the conjunctiva for 360 degreesassociated to conjunctival plaques of keratinization, hairs, and corneal lipid deposition and an irregular corneal astigmatism, amblyopia, and concomitant strabismus were secondary features (Mattos 1980)
  • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Remark(s)