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

Retinal microvascular changes in unilateral functional amblyopia detected by oct-angiography and follow-up during treatment.

Errera C, Romann J, Solecki L, Gaucher D, Ballonzoli L, Bourcier T, Sauer A
Eur J Ophthalmol 2024 Mar;34(2):399-407. Epub 2023 Jul 19 doi: 10.1177/11206721231188987. PMID: 37464746

Outcomes of cataract surgery in children with persistent hyperplastic primary vitreous.

Jinagal J, Gupta PC, Ram J, Sharma M, Singh SR, Yangzes S, Sukhija J, Singh R
Eur J Ophthalmol 2018 Mar;28(2):193-197. Epub 2017 Sep 14 doi: 10.5301/ejo.5001017. PMID: 28967071

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.

Chen J, Wang Q, Cabrera PE, Zhong Z, Sun W, Jiao X, Chen Y, Govindarajan G, Naeem MA, Khan SN, Ali MH, Assir MZ, Rahman FU, Qazi ZA, Riazuddin S, Akram J, Riazuddin SA, Hejtmancik JF
Invest Ophthalmol Vis Sci 2017 Apr 1;58(4):2207-2217. doi: 10.1167/iovs.17-21469. PMID: 28418495 Free PMC Article

See all (27)