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Aculeiform cataract(CTRCT4)

MedGen UID:
348463
•Concept ID:
C1861832
•
Disease or Syndrome; Finding
Synonyms: CTRCT4; Fasciculiform cataract; Frosted cataract; Needle-shaped cataract
 
HPO: HP:0010926
OMIM®: 115700

Definition

A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAculeiform cataract

Conditions with this feature

Cataract 2, multiple types
MedGen UID:
1648415
•Concept ID:
C4721890
•
Disease or Syndrome
Mutations in the CRYGC gene have been found to cause several types of cataract, which have been described as Coppock-like; embryonic, fetal, infantile nuclear; zonular pulverulent; and lamellar. Some patients also exhibit microcornea. Before it was known that mutations in the CRYGC gene cause several types of cataract, this entry was titled 'Cataract, Coppock-like,' with the symbol CCL.
See: Condition Record
Cataract 2, multiple types

Recent clinical studies

Etiology

High-resolution X-ray crystal structures of human gammaD crystallin (1.25 A) and the R58H mutant (1.15 A) associated with aculeiform cataract.
Basak A, Bateman O, Slingsby C, Pande A, Asherie N, Ogun O, Benedek GB, Pande J
J Mol Biol 2003 May 16;328(5):1137-47. doi: 10.1016/s0022-2836(03)00375-9. PMID: 12729747

Diagnosis

Crystalline aculeiform cataract.
Farmer EJ, Swann PG
J Am Optom Assoc 1983 Oct;54(10):913-4. PMID: 6630840

Therapy

A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type.
Vanita V, Singh D
Mol Cell Biochem 2012 Sep;368(1-2):167-72. Epub 2012 Jun 6 doi: 10.1007/s11010-012-1355-2. PMID: 22669729

Prognosis

CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract.
Zenteno JC, Morales ME, Moran-Barroso V, Sanchez-Navarro A
Mol Vis 2005 Jun 30;11:438-42. PMID: 16030500

Clinical prediction guides

CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract.
Zenteno JC, Morales ME, Moran-Barroso V, Sanchez-Navarro A
Mol Vis 2005 Jun 30;11:438-42. PMID: 16030500
The gamma-crystallins and human cataracts: a puzzle made clearer.
Héon E, Priston M, Schorderet DF, Billingsley GD, Girard PO, Lubsen N, Munier FL
Am J Hum Genet 1999 Nov;65(5):1261-7. doi: 10.1086/302619. PMID: 10521291Free PMC Article

Supplemental Content

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    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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