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About 603 results

ALLMedicine™ Ectopia Lentis Center

Research & Reviews  301 results

Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with iso...
https://doi.org/10.3892/mmr.2021.11914
Molecular Medicine Reports; Zhou Y, Guo D et. al.

Feb 12th, 2021 - Isolated ectopia lentis (IEL) can lead to blindness as result of severe complications, such as retinal detachment and secondary glaucoma. Pathogenic variants in the fibrillin 1 (FBN1) gene are a common cause of IEL. The aim of the present study wa...

Outcomes of three surgical approaches for managing ectopia lentis in Marfan syndrome.
https://doi.org/10.1177/1120672121992950
European Journal of Ophthalmology; Erdogan G, Kandemir Besek N et. al.

Feb 8th, 2021 - To investigate the clinical outcomes of three surgical approaches for ectopia lentis in Marfan syndrome (MS) patients who had undergone crystalline lens removal with posterior chamber intraocular lens (IOL) implantation techniques comprising the i...

Weill-Marchesani Syndrome - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/weill-ms/

Dec 9th, 2020 - Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhoo...

Three-Year Outcomes of Cionni-Modified Capsular Tension Ring Implantation in Children U...
https://doi.org/10.1016/j.ajo.2020.11.011
American Journal of Ophthalmology; Cai L, Han X et. al.

Nov 30th, 2020 - This study evaluated visual outcomes and complications at 3 years post-implantation of a Cionni-modified capsular tension ring (MCTR) with an intraocular lens (IOL) in ectopia lentis patients ≤8 years old. Prospective clinical cohort study. Includ...

Whole-exome sequencing identified a novel homozygous ASPH frameshift variant causing Tr...
https://doi.org/10.1002/mgg3.1553
Molecular Genetics & Genomic Medicine REFERENCES; Lei C, Guo T et. al.

Nov 20th, 2020 - Traboulsi syndrome is a rare disorder characterized by ectopia lentis and facial dysmorphism (large beaked nose), which was only reported in 18 individuals to date. It is caused by homozygous/compound heterozygous variants in the aspartate/asparag...

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Clinicaltrials.gov  301 results

Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with iso...
https://doi.org/10.3892/mmr.2021.11914
Molecular Medicine Reports; Zhou Y, Guo D et. al.

Feb 12th, 2021 - Isolated ectopia lentis (IEL) can lead to blindness as result of severe complications, such as retinal detachment and secondary glaucoma. Pathogenic variants in the fibrillin 1 (FBN1) gene are a common cause of IEL. The aim of the present study wa...

Outcomes of three surgical approaches for managing ectopia lentis in Marfan syndrome.
https://doi.org/10.1177/1120672121992950
European Journal of Ophthalmology; Erdogan G, Kandemir Besek N et. al.

Feb 8th, 2021 - To investigate the clinical outcomes of three surgical approaches for ectopia lentis in Marfan syndrome (MS) patients who had undergone crystalline lens removal with posterior chamber intraocular lens (IOL) implantation techniques comprising the i...

Weill-Marchesani Syndrome - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/weill-ms/

Dec 9th, 2020 - Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhoo...

Three-Year Outcomes of Cionni-Modified Capsular Tension Ring Implantation in Children U...
https://doi.org/10.1016/j.ajo.2020.11.011
American Journal of Ophthalmology; Cai L, Han X et. al.

Nov 30th, 2020 - This study evaluated visual outcomes and complications at 3 years post-implantation of a Cionni-modified capsular tension ring (MCTR) with an intraocular lens (IOL) in ectopia lentis patients ≤8 years old. Prospective clinical cohort study. Includ...

Whole-exome sequencing identified a novel homozygous ASPH frameshift variant causing Tr...
https://doi.org/10.1002/mgg3.1553
Molecular Genetics & Genomic Medicine REFERENCES; Lei C, Guo T et. al.

Nov 20th, 2020 - Traboulsi syndrome is a rare disorder characterized by ectopia lentis and facial dysmorphism (large beaked nose), which was only reported in 18 individuals to date. It is caused by homozygous/compound heterozygous variants in the aspartate/asparag...

see more →

News  1 results

Revised Criteria May Increase Accuracy of Marfan Diagnosis
https://www.mdedge.com/rheumatology/article/45971/lupus-connective-tissue-diseases/revised-criteria-may-increase-accuracy
Diana Mahoney

Aortic root aneurysm and ectopia lentis are the cardinal clinical features of Marfan syndrome, and the presence of both of them is sufficient for the “unequivocal diagnosis” of the genetic connective-tissue disorder, according to recently revised.

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