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Familial ectopia lentis

MedGen UID:
412537
•Concept ID:
C2746069
•
Disease or Syndrome
Synonym: Ectopia Lentis, Familial

Professional guidelines

PubMed

Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis.
Zhou Y, Guo D, Cao Q, Zhang X, Jin G, Zheng D
Mol Med Rep 2021 Apr;23(4) Epub 2021 Feb 12 doi: 10.3892/mmr.2021.11914. PMID: 33576469Free PMC Article

Recent clinical studies

Etiology

Zonule-Associated Gene Variants in Isolated Ectopia Lentis and Glaucoma.
Huang L, Xu T, Gan J, Mao Y, Zhao L, Jiao X, Fan M, Wang T, Zhang D, Xu M, Zhu Y, Hejtmancik JF, Liu X
J Glaucoma 2023 Jul 1;32(7):e80-e89. Epub 2023 Mar 20 doi: 10.1097/IJG.0000000000002209. PMID: 36946977
Recurrent Intraocular Lens Dislocation in a Patient with Familial Ectopia Lentis.
Wilczyński TK, Niewiem A, Leszczyński R, Michalska-Małecka K
Int J Environ Res Public Health 2021 Apr 25;18(9) doi: 10.3390/ijerph18094545. PMID: 33922930Free PMC Article
Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.
Reyes-Hernández OD, Palacios-Reyes C, Chávez-Ocaña S, Cortés-Malagón EM, Alonso-Themann PG, Ramos-Cano V, Ramírez-Bello J, Sierra-Martínez M
BMC Musculoskelet Disord 2016 Feb 15;17:79. doi: 10.1186/s12891-016-0935-9. PMID: 26875674Free PMC Article
FBN1 mutations in patients with descending thoracic aortic dissections.
Brautbar A, LeMaire SA, Franco LM, Coselli JS, Milewicz DM, Belmont JW
Am J Med Genet A 2010 Feb;152A(2):413-6. doi: 10.1002/ajmg.a.32856. PMID: 20082464Free PMC Article

Diagnosis

Familial Ectopia Lentis: Looking Beyond Marfan's Syndrome.
Hussain SJ, Amalnath D, Kasthuri N, Subramaniyan VK
J Assoc Physicians India 2023 Nov;71(11):94-95. doi: 10.59556/japi.71.0388. PMID: 38720505
A novel ADAMTSL4 compound heterozygous mutation in isolated ectopia lentis: a case report and review of the literature.
Wei H, Meng X, Qin H, Li X
J Med Case Rep 2023 Dec 26;17(1):532. doi: 10.1186/s13256-023-04272-7. PMID: 38146062Free PMC Article
Zonule-Associated Gene Variants in Isolated Ectopia Lentis and Glaucoma.
Huang L, Xu T, Gan J, Mao Y, Zhao L, Jiao X, Fan M, Wang T, Zhang D, Xu M, Zhu Y, Hejtmancik JF, Liu X
J Glaucoma 2023 Jul 1;32(7):e80-e89. Epub 2023 Mar 20 doi: 10.1097/IJG.0000000000002209. PMID: 36946977
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
Br J Ophthalmol 2023 Jun;107(6):774-779. Epub 2022 Jan 18 doi: 10.1136/bjophthalmol-2021-320475. PMID: 35042684
Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis.
Zhou Y, Guo D, Cao Q, Zhang X, Jin G, Zheng D
Mol Med Rep 2021 Apr;23(4) Epub 2021 Feb 12 doi: 10.3892/mmr.2021.11914. PMID: 33576469Free PMC Article

Prognosis

Zonule-Associated Gene Variants in Isolated Ectopia Lentis and Glaucoma.
Huang L, Xu T, Gan J, Mao Y, Zhao L, Jiao X, Fan M, Wang T, Zhang D, Xu M, Zhu Y, Hejtmancik JF, Liu X
J Glaucoma 2023 Jul 1;32(7):e80-e89. Epub 2023 Mar 20 doi: 10.1097/IJG.0000000000002209. PMID: 36946977
Augmentation index and the evolution of aortic disease in marfan-like syndromes.
Mortensen K, Baulmann J, Rybczynski M, Sheikhzadeh S, Aydin MA, Treede H, Dombrowski E, Kühne K, Peitsmeier P, Habermann CR, Robinson PN, Stuhrmann M, Berger J, Meinertz T, von Kodolitsch Y
Am J Hypertens 2010 Jul;23(7):716-24. Epub 2010 Apr 15 doi: 10.1038/ajh.2010.78. PMID: 20395939

Clinical prediction guides

Zonule-Associated Gene Variants in Isolated Ectopia Lentis and Glaucoma.
Huang L, Xu T, Gan J, Mao Y, Zhao L, Jiao X, Fan M, Wang T, Zhang D, Xu M, Zhu Y, Hejtmancik JF, Liu X
J Glaucoma 2023 Jul 1;32(7):e80-e89. Epub 2023 Mar 20 doi: 10.1097/IJG.0000000000002209. PMID: 36946977
Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis.
Zhou Y, Guo D, Cao Q, Zhang X, Jin G, Zheng D
Mol Med Rep 2021 Apr;23(4) Epub 2021 Feb 12 doi: 10.3892/mmr.2021.11914. PMID: 33576469Free PMC Article
Augmentation index and the evolution of aortic disease in marfan-like syndromes.
Mortensen K, Baulmann J, Rybczynski M, Sheikhzadeh S, Aydin MA, Treede H, Dombrowski E, Kühne K, Peitsmeier P, Habermann CR, Robinson PN, Stuhrmann M, Berger J, Meinertz T, von Kodolitsch Y
Am J Hypertens 2010 Jul;23(7):716-24. Epub 2010 Apr 15 doi: 10.1038/ajh.2010.78. PMID: 20395939
FBN1 mutations in patients with descending thoracic aortic dissections.
Brautbar A, LeMaire SA, Franco LM, Coselli JS, Milewicz DM, Belmont JW
Am J Med Genet A 2010 Feb;152A(2):413-6. doi: 10.1002/ajmg.a.32856. PMID: 20082464Free PMC Article

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