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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.
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.
Early-onset anterior polar cataract
MedGen UID:
340806
Concept ID:
C1855179
Congenital Abnormality
A polar cataract that affects the anterior pole of the lens.

Professional guidelines

PubMed

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

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
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
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
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

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
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
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

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

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