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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

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital total cataract

Professional guidelines

PubMed

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
Congenital cataract: management and results.
Jain IS, Pillai P, Gangwar DN, Gopal L, Dhir SP
J Pediatr Ophthalmol Strabismus 1983 Nov-Dec;20(6):243-6. doi: 10.3928/0191-3913-19831101-07. PMID: 6644486

Recent clinical studies

Diagnosis

Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C).
Khan AO, Aldahmesh MA, Meyer B
Am J Ophthalmol 2007 Dec;144(6):949-952. Epub 2007 Oct 15 doi: 10.1016/j.ajo.2007.08.005. PMID: 17937925

Clinical prediction guides

Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C).
Khan AO, Aldahmesh MA, Meyer B
Am J Ophthalmol 2007 Dec;144(6):949-952. Epub 2007 Oct 15 doi: 10.1016/j.ajo.2007.08.005. PMID: 17937925
A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family.
Gu F, Zhai H, Li D, Zhao L, Li C, Huang S, Ma X
Mol Vis 2007 Sep 11;13:1651-6. PMID: 17893667

Supplemental Content

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