Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome(RDICC)

MedGen UID:: 904740
•Concept ID:: C4225233
•: Disease or Syndrome

Synonym:	Retinal dystrophy and iris coloboma with or without congenital cataract

Gene (location): Gene(s) directly associated with this condition or phenotype.	MIR204 (9q21.12)

Monarch Initiative:	MONDO:0014747
OMIM®:	616722
Orphanet:	ORPHA488197

Definition

Retinal dystrophy and iris coloboma with or without cataract (RDICC) is characterized by early-onset chorioretinal dystrophy that is variably associated with other eye anomalies, including iris coloboma and/or congenital or early-onset cataract. Congenital glaucoma has also been observed (Conte et al., 2015; Jedlickova et al., 2023). [from OMIM]

Clinical features

From HPO

Developmental cataract

MedGen UID:: 3202
•Concept ID:: C0009691
•: Congenital Abnormality

A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.

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Posterior synechiae of the anterior chamber

MedGen UID:: 488784
•Concept ID:: C0152253
•: Disease or Syndrome

Adhesions between the iris and the lens.

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Reduced visual acuity

MedGen UID:: 65889
•Concept ID:: C0234632
•: Finding

Diminished clarity of vision.

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Iris coloboma

MedGen UID:: 116097
•Concept ID:: C0240063
•: Anatomical Abnormality

A coloboma of the iris.

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Retinal atrophy

MedGen UID:: 101075
•Concept ID:: C0521694
•: Disease or Syndrome

Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.

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Abnormality of the eye

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVFamilial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome

Iridogoniodysgenesis
- Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome

MedGen

National Center for Biotechnology Information

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Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome(RDICC)

Definition

Clinical features

Term Hierarchy

Supplemental Content

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Genetic Testing Registry

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