Congenital total cataract

MedGen UID:: 75616
•Concept ID:: C0266539
•: Congenital Abnormality

Synonyms:	Cataract, total congenital with posterior sutural opacities in Heterozygotes; Total early-onset cataract
SNOMED CT:	Congenital total cataract (29590001); Congenital complete cataract (29590001)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). 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 recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0021548
Orphanet:	ORPHA98994

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital total cataract

Abnormal anterior eye segment morphology
- Abnormal lens morphology
  - Cataract
    - Acquired Cataract
      - Age-related cataract
        Early-onset non-syndromic cataract
        Congenital total cataract

Professional guidelines

PubMed

Prevalence and prenatal diagnosis of congenital eye anomalies: A population-based study.

Maillet C, Guilbaud L, Monier I, Khoshnood B, Quoc EB, Dugas A, Lelong N, Jouannic JM
BJOG 2024 Sep;131(10):1385-1391. Epub 2024 Mar 25 doi: 10.1111/1471-0528.17817. PMID: 38528322

Prenatal Diagnosis of Congenital Cataract: Sonographic Features and Perinatal Outcome in 41 Cases.

Qin Y, Zhong X, Wen H, Zeng Q, Liao Y, Luo D, Liang M, Tang Y, Guo J, Cao H, Yang S, Tian X, Luo G, Li S
Ultraschall Med 2022 Dec;43(6):e125-e134. Epub 2021 Mar 16 doi: 10.1055/a-1320-0799. PMID: 33728625

Diagnosis and management of cataracts in infancy and childhood.

Nelson LB
Ophthalmic Surg 1984 Aug;15(8):688-97. PMID: 6384869

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