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EDICT syndrome(EDICT)

MedGen UID:
482022
Concept ID:
C3280392
Disease or Syndrome
Synonyms: EDICT; ENDOTHELIAL DYSTROPHY, IRIS HYPOPLASIA, CONGENITAL CATARACT, AND STROMAL THINNING SYNDROME; KERATOCONUS WITH CATARACT; KERATOCONUS, FAMILIAL, WITH EARLY-ONSET ANTERIOR POLAR CATARACT
SNOMED CT: Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (722439009); EDICT syndrome (722439009); EDICT (endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning) syndrome (722439009); Autosomal dominant keratoconus with early-onset anterior polar cataract (722439009); Familial keratoconus with cataract (722439009)
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.
 
Gene (location): MIR184 (15q25.1)
 
Monarch Initiative: MONDO:0013678
OMIM®: 614303
Orphanet: ORPHA293936

Definition

EDICT syndrome is an autosomal dominant syndromal anterior segment dysgenesis characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and thinning of the corneal stroma (Iliff et al., 2012). Syndromes with overlapping features have been reported, including cornea guttata with anterior polar cataracts (121390) and congenital corneal opacities, cornea guttata, and corectopia (608484). [from OMIM]

Clinical features

From HPO
Astigmatism
MedGen UID:
2473
Concept ID:
C0004106
Disease or Syndrome
Astigmatism (from the Greek 'a' meaning absence and 'stigma' meaning point) is a condition in which the parallel rays of light entering the eye through the refractive media are not focused on a single point. Both corneal and noncorneal factors contribute to refractive astigmatism. Corneal astigmatism is mainly the result of an aspheric anterior surface of the cornea, which can be measured readily by means of a keratometer; in a small fraction of cases (approximately 1 in 10) the effect is neutralized by the back surface. The curvature of the back surface of the cornea is not considered in most studies, because it is more difficult to measure; moreover, in the case of severe corneal astigmatism, there is evidence that both surfaces have the same configuration. Noncorneal factors are errors in the curvature of the 2 surfaces of the crystalline lens, irregularity in the refractive index of the lens, and an eccentric lens position. Since the cornea is the dominant component of the eye's refracting system, a highly astigmatic cornea is likely to result in a similarly astigmatic ocular refraction (summary by Clementi et al., 1998).
Keratoconus
MedGen UID:
44015
Concept ID:
C0022578
Disease or Syndrome
A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Microcornea
MedGen UID:
78610
Concept ID:
C0266544
Congenital Abnormality
A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Hypoplasia of the iris
MedGen UID:
91029
Concept ID:
C0344539
Congenital Abnormality
Congenital underdevelopment of the iris.
Early-onset anterior polar cataract
MedGen UID:
340806
Concept ID:
C1855179
Congenital Abnormality
A polar cataract that affects the anterior pole of the lens.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEDICT syndrome
Follow this link to review classifications for EDICT syndrome in Orphanet.

Professional guidelines

PubMed

Zainuddin AA, Mahdy ZA
Arch Sex Behav 2017 Feb;46(2):353-360. Epub 2016 Apr 21 doi: 10.1007/s10508-016-0754-y. PMID: 27102604Free PMC Article

Recent clinical studies

Diagnosis

Moschos MM, Droutsas K, Sioziou A, Dettoraki M, Gazouli M
Cornea 2016 May;35(5):631-3. doi: 10.1097/ICO.0000000000000769. PMID: 26845316

Prognosis

Lechner J, Bae HA, Guduric-Fuchs J, Rice A, Govindarajan G, Siddiqui S, Abi Farraj L, Yip SP, Yap M, Das M, Souzeau E, Coster D, Mills RA, Lindsay R, Phillips T, Mitchell P, Ali M, Inglehearn CF, Sundaresan P, Craig JE, Simpson DA, Burdon KP, Willoughby CE
Invest Ophthalmol Vis Sci 2013 Aug 5;54(8):5266-72. doi: 10.1167/iovs.13-12035. PMID: 23833072

Clinical prediction guides

Moschos MM, Droutsas K, Sioziou A, Dettoraki M, Gazouli M
Cornea 2016 May;35(5):631-3. doi: 10.1097/ICO.0000000000000769. PMID: 26845316
Lechner J, Bae HA, Guduric-Fuchs J, Rice A, Govindarajan G, Siddiqui S, Abi Farraj L, Yip SP, Yap M, Das M, Souzeau E, Coster D, Mills RA, Lindsay R, Phillips T, Mitchell P, Ali M, Inglehearn CF, Sundaresan P, Craig JE, Simpson DA, Burdon KP, Willoughby CE
Invest Ophthalmol Vis Sci 2013 Aug 5;54(8):5266-72. doi: 10.1167/iovs.13-12035. PMID: 23833072
Iliff BW, Riazuddin SA, Gottsch JD
Invest Ophthalmol Vis Sci 2012 Jan 25;53(1):348-53. doi: 10.1167/iovs.11-8783. PMID: 22131394Free PMC Article
Jun AS, Broman KW, Do DV, Akpek EK, Stark WJ, Gottsch JD
Am J Ophthalmol 2002 Aug;134(2):172-6. doi: 10.1016/s0002-9394(02)01401-0. PMID: 12140022

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