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Ring dermoid of cornea(RDC)

MedGen UID:: 357922
•Concept ID:: C1867155
•: Disease or Syndrome

Synonyms:	Bilateral, annular limbal dermoids with corneal and conjunctival extension; RDC; Ring dermoid syndrome
SNOMED CT:	Ring dermoid of cornea (723499000); Ring dermoid syndrome (723499000)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	PITX2 (4q25)

Monarch Initiative:	MONDO:0008387
OMIM®:	180550
Orphanet:	ORPHA91481

Definition

Ring dermoid of cornea (RDC) is an autosomal dominant condition characterized by bilateral annular limbal dermoids with corneal and conjunctival extension (summary by Xia et al., 2004). [from OMIM]

Clinical features

From HPO

Abnormal conjunctiva morphology

MedGen UID:: 871353
•Concept ID:: C4025847
•: Anatomical Abnormality

An abnormality of the conjunctiva.

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Conjunctival dermolipoma

MedGen UID:: 1639490
•Concept ID:: C4703706
•: Disease or Syndrome

A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimeters posterior to the limbus.

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Amblyopia

MedGen UID:: 8009
•Concept ID:: C0002418
•: Disease or Syndrome

Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.

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Corneal astigmatism

MedGen UID:: 573307
•Concept ID:: C0339682
•: Disease or Syndrome

A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea.

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Abnormal cornea morphology

MedGen UID:: 383737
•Concept ID:: C1855670
•: Finding

Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.

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Abnormal corneal limbus morphology

MedGen UID:: 1369814
•Concept ID:: C4476718
•: Anatomical Abnormality

An anomaly of the margin of the cornea overlapped by the sclera.

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Abnormality of head or neck
- Abnormal conjunctiva morphology
- Conjunctival dermolipoma
Abnormality of the eye

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVRing dermoid of cornea

Hereditary eye tumor
- Ring dermoid of cornea

Follow this link to review classifications for Ring dermoid of cornea in Orphanet.

Recent clinical studies

Clinical prediction guides

Structural and biophysical insights into the ligand-free Pitx2 homeodomain and a ring dermoid of the cornea inducing homeodomain mutant.

Doerdelmann T, Kojetin DJ, Baird-Titus JM, Solt LA, Burris TP, Rance M
Biochemistry 2012 Jan 17;51(2):665-76. Epub 2012 Jan 6 doi: 10.1021/bi201639x. PMID: 22224469 Free PMC Article

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Ring dermoid of cornea(RDC)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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