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Cataract 39 multiple types(CTRCT39)

MedGen UID:
815130
•Concept ID:
C3808800
•
Disease or Syndrome
Synonym: Cataract 39, multiple types, autosomal dominant
 
Gene (location): CRYGB (2q33.3)
 
Monarch Initiative: MONDO:0014075
OMIM®: 615188

Definition

Mutations in the CRYGB gene have been found to cause multiple types of cataract, which have been described as lamellar, anterior polar, and complete. [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.
See: Feature record | Search on this feature
Cataract 5 multiple types
MedGen UID:
78608
•Concept ID:
C0266537
•
Congenital Abnormality
Congenital cataracts cause 10 to 30% of all blindness in children, with one-third of cases estimated to have a genetic cause (summary by Bu et al., 2002). Mutations in the HSF4 gene have been found to cause multiple types of cataract, which have been described as infantile, lamellar, zonular, nuclear, anterior polar, stellate, and Marner-type. The preferred title for this entry was formerly 'Lamellar Cataract,' with 'Cataract, Marner Type; CAM; CTM' an included title.
See: Feature record | Search on this feature
Early-onset anterior polar cataract
MedGen UID:
340806
•Concept ID:
C1855179
•
Congenital Abnormality
A polar cataract that affects the anterior pole of the lens.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Incidence and treatment approach of intraocular pressure elevation after various types of local steroids for retinal diseases.
Wykrota AA, Abdin AD, Munteanu C, Löw U, Seitz B
Graefes Arch Clin Exp Ophthalmol 2023 Dec;261(12):3569-3579. Epub 2023 Jul 11 doi: 10.1007/s00417-023-06163-5. PMID: 37432451Free PMC Article

Recent clinical studies

Etiology

Incidence and treatment approach of intraocular pressure elevation after various types of local steroids for retinal diseases.
Wykrota AA, Abdin AD, Munteanu C, Löw U, Seitz B
Graefes Arch Clin Exp Ophthalmol 2023 Dec;261(12):3569-3579. Epub 2023 Jul 11 doi: 10.1007/s00417-023-06163-5. PMID: 37432451Free PMC Article
Efficacy and Safety of Trabectome Surgery in Chinese Open-Angle Glaucoma.
Lee JWY, Yick DWF, Tsang S, Yuen CYF, Lai JSM
Medicine (Baltimore) 2016 Apr;95(15):e3212. doi: 10.1097/MD.0000000000003212. PMID: 27082559Free PMC Article
Intraoperative Complications of Cataract Surgery in Tehran Province, Iran.
Hashemi H, Rezvan F, Etemad K, Gilasi H, Asgari S, Mahdavi A, Mohazab-Torabi S, Yekta A, Khabazkhoob M
Optom Vis Sci 2016 Mar;93(3):266-71. doi: 10.1097/OPX.0000000000000795. PMID: 26760583
Diet and cataract: a case-control study.
Theodoropoulou S, Samoli E, Theodossiadis PG, Papathanassiou M, Lagiou A, Lagiou P, Tzonou A
Int Ophthalmol 2014 Feb;34(1):59-68. Epub 2013 May 29 doi: 10.1007/s10792-013-9795-6. PMID: 23715849

Therapy

Incidence and treatment approach of intraocular pressure elevation after various types of local steroids for retinal diseases.
Wykrota AA, Abdin AD, Munteanu C, Löw U, Seitz B
Graefes Arch Clin Exp Ophthalmol 2023 Dec;261(12):3569-3579. Epub 2023 Jul 11 doi: 10.1007/s00417-023-06163-5. PMID: 37432451Free PMC Article
Intraoperative Complications of Cataract Surgery in Tehran Province, Iran.
Hashemi H, Rezvan F, Etemad K, Gilasi H, Asgari S, Mahdavi A, Mohazab-Torabi S, Yekta A, Khabazkhoob M
Optom Vis Sci 2016 Mar;93(3):266-71. doi: 10.1097/OPX.0000000000000795. PMID: 26760583
Diet and cataract: a case-control study.
Theodoropoulou S, Samoli E, Theodossiadis PG, Papathanassiou M, Lagiou A, Lagiou P, Tzonou A
Int Ophthalmol 2014 Feb;34(1):59-68. Epub 2013 May 29 doi: 10.1007/s10792-013-9795-6. PMID: 23715849

Prognosis

Incidence and treatment approach of intraocular pressure elevation after various types of local steroids for retinal diseases.
Wykrota AA, Abdin AD, Munteanu C, Löw U, Seitz B
Graefes Arch Clin Exp Ophthalmol 2023 Dec;261(12):3569-3579. Epub 2023 Jul 11 doi: 10.1007/s00417-023-06163-5. PMID: 37432451Free PMC Article

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • GTR(Research)
      Research tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed (OMIM)
      Related literature resources in PubMed

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