Ring dermoid of cornea

Definition:

The ring dermoid of the cornea (RDC) is an autosomal dominantly inherited syndrome characterised by bilateral annular limbal dermoids with corneal and conjunctival extension. A mutation in PITX2 has been identified in the individuals affected by the RDC. PITX2 encodes a homeodomain transcription factor required for normal development of multiple organs, including eye, heart, and pituitary.

References:

[1]. K Xia, et al. Mutation in PITX2 is associated with ring dermoid of the cornea. J Med Genet. 2004 Dec;41(12):e129. [Content Brief]

[2]. Thomas Doerdelmann, et al. Structural and biophysical insights into the ligand-free Pitx2 homeodomain and a ring dermoid of the cornea inducing homeodomain mutant. Biochemistry. 2012 Jan 17;51(2):665-76. [Content Brief]

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