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Year Number of Results
1974 1
1988 2
1991 1
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2024 0

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Page 1
Correlation between novel compound heterozygous ADAMTSL4 variants and primary phenotypes of ectopia lentis et pupillae.
Zhao J, Zhou Y, Zhang J, Zhang K, Shang L, Li J. Zhao J, et al. Exp Eye Res. 2022 Nov;224:109243. doi: 10.1016/j.exer.2022.109243. Epub 2022 Sep 9. Exp Eye Res. 2022. PMID: 36089008
Gene mutations were ascertained with the Sanger sequencing after the polymerase chain reaction. RESULTS: All three female siblings were diagnosed as the Ectopia lentis et pupillae (ELeP) through combination of clinical examination and genetic analysis. …
Gene mutations were ascertained with the Sanger sequencing after the polymerase chain reaction. RESULTS: All three female siblings were diag …
Ectopia Lentis et Pupillae Caused by ADAMTSL4 Pathogenic Variants and an Algorithm for Work-up.
Safi M, Nejad SK, O'Hara M, Shankar SP. Safi M, et al. J Pediatr Ophthalmol Strabismus. 2019 Jul 5;56:e45-e48. doi: 10.3928/01913913-20190509-01. J Pediatr Ophthalmol Strabismus. 2019. PMID: 31282960
It can be inherited or acquired with isolated or systemic findings. The authors describe a 4-year-old girl with isolated ectopia lentis et pupillae caused by pathogenic variants in the ADAMTSL4 gene and discuss the molecular genetic work-up of individu …
It can be inherited or acquired with isolated or systemic findings. The authors describe a 4-year-old girl with isolated ectopia l …
The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature.
Knight LSW, Mullany S, Taranath DA, Ruddle JB, Barnett CP, Sallevelt SCEH, Berry EC, Marshall HN, Hollitt GL, Souzeau E, Craig JE, Siggs OM. Knight LSW, et al. Mol Vis. 2022 Sep 4;28:257-268. eCollection 2022. Mol Vis. 2022. PMID: 36284667 Free PMC article. Review.
The main ocular phenotypes included ectopia lentis (95/95, 100%), ectopia lentis et pupillae (18/95, 19%), iris transillumination (13/95, 14%), iridodonesis (12/95, 13%), persistent pupillary membrane (12/95, 13%), and early-onset cataract or lens opac …
The main ocular phenotypes included ectopia lentis (95/95, 100%), ectopia lentis et pupillae (18/95, 19%), iris …
Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene.
Sharifi Y, Tjon-Fo-Sang MJ, Cruysberg JR, Maat-Kievit AJ. Sharifi Y, et al. Br J Ophthalmol. 2013 May;97(5):583-7. doi: 10.1136/bjophthalmol-2012-302367. Epub 2013 Feb 20. Br J Ophthalmol. 2013. PMID: 23426735
OBJECTIVES: To identify the phenotype, genetic defect and inheritance pattern of ectopia lentis et pupillae (ELP) in a large Dutch family, previously diagnosed as presumed autosomal dominant ELP because of the occurrence of ELP in three generations. .. …
OBJECTIVES: To identify the phenotype, genetic defect and inheritance pattern of ectopia lentis et pupillae (ELP …
Ectopia lentis et pupillae.
Buchta RM. Buchta RM. Clin Pediatr (Phila). 1974 Dec;13(12):1079-80. doi: 10.1177/000992287401301222. Clin Pediatr (Phila). 1974. PMID: 4434668 No abstract available.
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.
Christensen AE, Fiskerstrand T, Knappskog PM, Boman H, Rødahl E. Christensen AE, et al. Invest Ophthalmol Vis Sci. 2010 Dec;51(12):6369-73. doi: 10.1167/iovs.10-5597. Epub 2010 Aug 11. Invest Ophthalmol Vis Sci. 2010. PMID: 20702823
Three of 190 local blood donors were carriers of this mutation. CONCLUSIONS: Ectopia lentis et pupillae is associated with a number of malformations primarily in the anterior segment of the eye. The causative mutation, which is the first to be describe …
Three of 190 local blood donors were carriers of this mutation. CONCLUSIONS: Ectopia lentis et pupillae is assoc …
Ectopia lentis et pupillae: the genetic aspects and differential diagnosis.
Colley A, Lloyd IC, Ridgway A, Donnai D. Colley A, et al. J Med Genet. 1991 Nov;28(11):791-4. doi: 10.1136/jmg.28.11.791. J Med Genet. 1991. PMID: 1770538 Free PMC article.
Two sib pairs and a fifth child are described with autosomal recessive ectopia lentis et pupillae. Patients with this disorder need regular ophthalmic review, but do not have the skeletal and metabolic complications associated with other syndromes with …
Two sib pairs and a fifth child are described with autosomal recessive ectopia lentis et pupillae. Patients with …
Ectopia lentis et pupillae: report of a unilateral case and surgical management.
Ekonomidis P, Androudi S, Brazitikos P, Alexandridis A. Ekonomidis P, et al. Graefes Arch Clin Exp Ophthalmol. 2006 Jul;244(7):878-9. doi: 10.1007/s00417-005-0180-7. Epub 2005 Nov 29. Graefes Arch Clin Exp Ophthalmol. 2006. PMID: 16315041
PURPOSE: To report a case of clinically unilateral congenital ectopia lentis et pupillae (ELeP) and discuss its surgical management. ...
PURPOSE: To report a case of clinically unilateral congenital ectopia lentis et pupillae (ELeP) and discuss its …
Novel ADAMTSL4 gene mutations in Chinese patients with isolated ectopia lentis.
Guo D, Yang F, Zhou Y, Zhang X, Cao Q, Jin G, Zheng D. Guo D, et al. Br J Ophthalmol. 2023 Jun;107(6):774-779. doi: 10.1136/bjophthalmol-2021-320475. Epub 2022 Jan 18. Br J Ophthalmol. 2023. PMID: 35042684
Additionally, four patients had combined congenital cataracts, and two patients had ectopia lentis et pupillae (ELP). One of eight mutations was a homozygous missense mutation, and the other seven mutations were compound heterozygous. ...
Additionally, four patients had combined congenital cataracts, and two patients had ectopia lentis et pupillae ( …
ADAMTSL4-related ectopia lentis: A case of pseudodominance with an asymptomatic parent.
Scanga HL, Nischal KK. Scanga HL, et al. Am J Med Genet A. 2022 Jun;188(6):1853-1857. doi: 10.1002/ajmg.a.62698. Epub 2022 Feb 26. Am J Med Genet A. 2022. PMID: 35218299
Pathogenic variants of ADAMTSL4 are associated with autosomal recessive ectopia lentis et pupillae and isolated ectopia lentis, often presenting congenitally or in childhood. ...
Pathogenic variants of ADAMTSL4 are associated with autosomal recessive ectopia lentis et pupillae and isolated …
17 results