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Punctate cataract

MedGen UID:
488832
•Concept ID:
C0271165
•
Disease or Syndrome; Finding
Synonym: Punctate lenticular opacities
SNOMED CT: Punctate cataract (40714009)
 
HPO: HP:0007648

Definition

A type of cataract with punctate opacities of the lens. [from HPO]

Conditions with this feature

Craniolenticulosutural dysplasia
MedGen UID:
334671
•Concept ID:
C1843042
•
Disease or Syndrome
Craniolenticulosutural dysplasia is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects (summary by Boyadjiev et al., 2011).
See: Condition Record
Craniolenticulosutural dysplasia

Professional guidelines

PubMed

Clinical features and comprehensive treatment of persistent corneal epithelial dysfunction after cataract surgery.
Xiao X, Lin Y, Fang X, Xie Z, Luo S, Wu H
BMC Ophthalmol 2024 Apr 26;24(1):197. doi: 10.1186/s12886-024-03466-x. PMID: 38671418Free PMC Article
Definition and Diagnostic Criteria for Pediatric Blepharokeratoconjunctivitis.
Morales-Mancillas NR, Velazquez-Valenzuela F, Kinoshita S, Suzuki T, Dahlmann-Noor AH, Dart JKG, Hingorani M, Ali A, Fung S, Akova YA, Doan S, Gupta N, Hammersmith KM, Tan DTH, Paez-Garza JH, Rodriguez-Garcia A
JAMA Ophthalmol 2024 Jan 1;142(1):39-47. doi: 10.1001/jamaophthalmol.2023.5750. PMID: 38127333Free PMC Article
Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract.
Qi C, He Y, Jiang C, Zhang X, Zhu P, Li W, Zhou H, Xue C, Xia X
Mol Med Rep 2023 Jun;27(6) Epub 2023 May 11 doi: 10.3892/mmr.2023.13008. PMID: 37165913Free PMC Article

Recent clinical studies

Etiology

Coats' disease and bilateral cataract in a child with Turner syndrome: a case report.
Beby F, Roche O, Burillon C, Denis P
Graefes Arch Clin Exp Ophthalmol 2005 Dec;243(12):1291-3. Epub 2005 Jun 14 doi: 10.1007/s00417-005-1194-x. PMID: 15959738

Diagnosis

Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel CRPPA mutation in different clinical manifestations.
Bayram N, Bayram AK, Per H, Gümüş H, Ozsaygili C, Doğan MS, Çağlayan AO
Eur J Ophthalmol 2022 Sep;32(5):NP71-NP76. Epub 2021 May 12 doi: 10.1177/11206721211016306. PMID: 33977792
Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions.
Ruggieri M, Roggini M, Spalice A, Addis M, Iannetti P
Pediatr Neurol 2009 May;40(5):383-6. doi: 10.1016/j.pediatrneurol.2008.11.006. PMID: 19380077
Coats' disease and bilateral cataract in a child with Turner syndrome: a case report.
Beby F, Roche O, Burillon C, Denis P
Graefes Arch Clin Exp Ophthalmol 2005 Dec;243(12):1291-3. Epub 2005 Jun 14 doi: 10.1007/s00417-005-1194-x. PMID: 15959738

Prognosis

A novel single-base deletional mutation of MIP impairs protein distribution and cell-to-cell adhesion in autosomal dominant cataracts in a Chinese family.
Yu Y, Qiao Y, Ye Y, Luo C, Yao K
Am J Med Genet A 2024 May;194(5):e63504. Epub 2023 Dec 28 doi: 10.1002/ajmg.a.63504. PMID: 38153133
Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family.
Shentu X, Miao Q, Tang X, Yin H, Zhao Y
PLoS One 2015;10(5):e0126679. Epub 2015 May 6 doi: 10.1371/journal.pone.0126679. PMID: 25946197Free PMC Article
A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract.
Ding X, Zhou N, Lin H, Chen J, Zhao C, Zhou G, Hejtmancik JF, Qi Y
PLoS One 2014;9(7):e102733. Epub 2014 Jul 17 doi: 10.1371/journal.pone.0102733. PMID: 25033405Free PMC Article
Coats' disease and bilateral cataract in a child with Turner syndrome: a case report.
Beby F, Roche O, Burillon C, Denis P
Graefes Arch Clin Exp Ophthalmol 2005 Dec;243(12):1291-3. Epub 2005 Jun 14 doi: 10.1007/s00417-005-1194-x. PMID: 15959738

Clinical prediction guides

A novel single-base deletional mutation of MIP impairs protein distribution and cell-to-cell adhesion in autosomal dominant cataracts in a Chinese family.
Yu Y, Qiao Y, Ye Y, Luo C, Yao K
Am J Med Genet A 2024 May;194(5):e63504. Epub 2023 Dec 28 doi: 10.1002/ajmg.a.63504. PMID: 38153133
Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family.
Shentu X, Miao Q, Tang X, Yin H, Zhao Y
PLoS One 2015;10(5):e0126679. Epub 2015 May 6 doi: 10.1371/journal.pone.0126679. PMID: 25946197Free PMC Article
A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract.
Ding X, Zhou N, Lin H, Chen J, Zhao C, Zhou G, Hejtmancik JF, Qi Y
PLoS One 2014;9(7):e102733. Epub 2014 Jul 17 doi: 10.1371/journal.pone.0102733. PMID: 25033405Free PMC Article
Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions.
Ruggieri M, Roggini M, Spalice A, Addis M, Iannetti P
Pediatr Neurol 2009 May;40(5):383-6. doi: 10.1016/j.pediatrneurol.2008.11.006. PMID: 19380077
Coats' disease and bilateral cataract in a child with Turner syndrome: a case report.
Beby F, Roche O, Burillon C, Denis P
Graefes Arch Clin Exp Ophthalmol 2005 Dec;243(12):1291-3. Epub 2005 Jun 14 doi: 10.1007/s00417-005-1194-x. PMID: 15959738

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