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Congenital blue dot cataract(CCA1; CTRCT7)

MedGen UID:: 138007
•Concept ID:: C0344523
•: Congenital Abnormality

Synonym:	Cerulean cataract
SNOMED CT:	Cerulean cataract (204138006); Congenital blue dot cataract (204138006)
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)

HPO:	HP:0007976
Monarch Initiative:	MONDO:0020374
OMIM®:	115660
Orphanet:	ORPHA98989

Definition

Cerulean cataract, first described by Vogt (1922), is an autosomal dominant, early-onset, bilateral cataract with complete penetrance. Newborns appear asymptomatic until the age of 18 to 24 months, at which time they can be clinically diagnosed by slit-lamp examination through the appearance of tiny blue or white opacities that form first in the superficial layers of the fetal lens nucleus. The opacities progress throughout the adult lens nucleus and the cortex, forming concentric layers, with central lesions oriented radially. Histologically the lesions appear to be tapered cavities between lens fibers. Progression of the cataract is slow, such that patients may have lens extractions between the ages of 16 and 35 years (Armitage et al., 1995). The preferred title/symbol of this entry was formerly 'Cataract, Congenital, Cerulean Type, 1; CCA1.' [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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Visual loss

MedGen UID:: 784038
•Concept ID:: C3665386
•: Finding

Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).

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Mildly reduced visual acuity

MedGen UID:: 1671080
•Concept ID:: C4732817
•: Finding

Mild reduction of the ability to see. On the 6m visual acuity scale, mild reduction is defined as less than 6/12 but at least 6/18. On the 20ft visual acuity scale, mild reduction is defined as less than 20/40 but at least 20/70. On the decimal visual acuity scale, mild reduction is defined as less than 0.5 but at least 0.3.

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Abnormality of the eye

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital blue dot cataract
- CROGVCataract 7
- CROGVCataract 37

Abnormal eye morphology
- Abnormal anterior eye segment morphology
  - Abnormal lens morphology
    - Cataract
      - Zonular cataract
        Punctate cataract
        Congenital blue dot cataract
        Cataract 7
        Cataract 37

Conditions with this feature

Cataract 3 multiple types

MedGen UID:: 321901
•Concept ID:: C1832175
•: Disease or Syndrome

Mutations in the CRYBB2 gene have been found to cause several types of cataract, which have been described as congenital cerulean, 'blue dot,' Coppock-like, sutural with punctate and cerulean opacities, pulverulent embryonal, pulverulent with cortical opacities, dense posterior star-shaped subcapsular with pulverulent opacities in the cortical and embryonal regions, and dense embryonal. Before it was known that mutations in the CRYBB2 gene cause several types of cataract, the preferred title of this entry was 'Cataract, Congenital, Cerulean Type 2,' with the symbol CCA2.

See: Condition Record

Cataract 21 multiple types

MedGen UID:: 347538
•Concept ID:: C1857768
•: Congenital Abnormality

Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as cortical pulverulent, lamellar, nuclear, nuclear pulverulent, nuclear stellate, anterior polar, anterior subcapsular, posterior subcapsular, and cerulean. In some cases, the cataracts are of juvenile onset. The preferred title of this entry was formerly 'Cataract, Pulverulent, Juvenile-Onset,' with an 'Included' title/symbol of 'Cataract, Congenital, Cerulean Type, 4; CCA4.'

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Optic atrophy 10 with or without ataxia, intellectual disability, and seizures

MedGen UID:: 905727
•Concept ID:: C4225227
•: Disease or Syndrome

See: Condition Record

Cataract 21 multiple types

Cataract 3 multiple types

Optic atrophy 10 with or without ataxia, intellectual disability, and seizures

Recent clinical studies

Diagnosis

Rare Coexistence of Bilateral Congenital Sutural and Cortical Blue Dot Cataracts.

Gurnani B, Kaur K, Gireesh P
J Pediatr Ophthalmol Strabismus 2020 Jan 1;57(1):68. doi: 10.3928/01913913-20191011-01. PMID: 31972045

See all (1)

Prognosis

Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.

Santhiya ST, Kumar GS, Sudhakar P, Gupta N, Klopp N, Illig T, Söker T, Groth M, Platzer M, Gopinath PM, Graw J
Mol Vis 2010 Sep 10;16:1837-47. PMID: 21031021 Free PMC Article

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Clinical prediction guides

A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q.

Berry V, Ionides AC, Moore AT, Bhattacharya SS
Eur J Hum Genet 2011 Dec;19(12):1289-91. Epub 2011 Jul 6 doi: 10.1038/ejhg.2011.130. PMID: 21731060 Free PMC Article

Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.

Santhiya ST, Kumar GS, Sudhakar P, Gupta N, Klopp N, Illig T, Söker T, Groth M, Platzer M, Gopinath PM, Graw J
Mol Vis 2010 Sep 10;16:1837-47. PMID: 21031021 Free PMC Article

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Congenital blue dot cataract(CCA1; CTRCT7)

Definition

Clinical features

Term Hierarchy

Conditions with this feature

Recent clinical studies

Diagnosis

Prognosis

Clinical prediction guides

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