Familial ectopia lentis

Also Known As:

Ectopia Lentis, Familial; Ectopia Lentis, Isolated; Ectopia lentis isolated; Isolated ectopia lentis

Networked: 8 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Eye Diseases: 3522
- Eye Abnormalities: 95
  - Ectopia Lentis: 170
    - Familial ectopia lentis: 8
- Lens Diseases: 7
  - Lens Subluxation: 197
    - Ectopia Lentis: 170
      - Familial ectopia lentis: 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Eye Abnormalities: 95
    - Ectopia Lentis: 170
      - Familial ectopia lentis: 8

Related Diseases

1.	Marfan Syndrome (Marfan's Syndrome)
2.	Weill-Marchesani Syndrome
3.	Glaucoma
4.	Ascending Aorta Aneurysm
5.	Weill-Marchesani-Like Syndrome

Experts

1.	Leszczyński, Rafał: 1 article (01/2021)
2.	Michalska-Małecka, Katarzyna: 1 article (01/2021)
3.	Niewiem, Alfred: 1 article (01/2021)
4.	Wilczyński, Tomasz K: 1 article (01/2021)
5.	Apte, Suneel S: 1 article (09/2015)
6.	Hubmacher, Dirk: 1 article (09/2015)
7.	Chen, Chao: 1 article (03/2013)
8.	Hu, Hai-Tao: 1 article (03/2013)
9.	Jin, Tian-Bo: 1 article (03/2013)
10.	Liu, Qing-Bo: 1 article (03/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Familial ectopia lentis:

1.	Fibrillin-1IBA 03/01/2013 - "Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1)." 06/01/2006 - "To examine the fibrillin-1 (FBN1) gene for mutations in members of a Chinese family with isolated ectopia lentis. " 01/01/2000 - "Fibrillin-1 mutations have also been found in patients who do not fulfil clinical criteria for the diagnosis of Marfan syndrome, but have related disorders of connective tissue, such as isolated ectopia lentis, familial aortic aneurysm, and Marfan-like skeletal abnormalities, so that Marfan syndrome may be regarded as one of a range of type 1 fibrillinopathies. " 01/01/1997 - "Fibrillin-1 mutations have also been found in several other related connective tissue disorders, such as severe neonatal Marfan syndrome, dominant ectopia lentis, familial ascending aortic aneurysm, isolated skeletal features of Marfan syndrome, and Shprintzen-Goldberg syndrome. " 01/01/2023 - "We report 3 novel variants in fibrillin-1 (FBN1) and latent transforming growth factor-β-binding protein 2 (LTBP2) in 3 families with isolated ectopia lentis (EL), which shed new light on the diagnosis and genetic counseling of EL and secondary glaucoma in clinical settings. "
2.	Matrix Metalloproteinases (MMPs)IBA 01/01/2004 - "Isolated ectopia lentis: potential role of matrix metalloproteinases in fibrillin degradation."
3.	Transforming Growth Factors (Transforming Growth Factor)IBA 01/01/2023 - "We report 3 novel variants in fibrillin-1 (FBN1) and latent transforming growth factor-β-binding protein 2 (LTBP2) in 3 families with isolated ectopia lentis (EL), which shed new light on the diagnosis and genetic counseling of EL and secondary glaucoma in clinical settings. "
4.	Peptide Hydrolases (Proteases)FDA Link 09/01/2015 - "Whereas two such disorders, Weill-Marchesani syndrome 1 and Weill-Marchesani-like syndrome involve proteases (ADAMTS10 and ADAMTS17, respectively), geleophysic dysplasia and isolated ectopia lentis in humans involve ADAMTSL2 and ADAMTSL4, respectively, which are not proteases. "
5.	Cysteine (L-Cysteine)FDA Link 06/01/2006 - "A recurrent mutation of FBN1 gene resulted in an arginine-to-cysteine residue (p.R62C), is responsible for the patients with isolated ectopia lentis in a Chinese family."
6.	Carrier Proteins (Binding Protein)IBA 01/01/2023 - "We report 3 novel variants in fibrillin-1 (FBN1) and latent transforming growth factor-β-binding protein 2 (LTBP2) in 3 families with isolated ectopia lentis (EL), which shed new light on the diagnosis and genetic counseling of EL and secondary glaucoma in clinical settings. "
7.	Arginine (L-Arginine)FDA Link 06/01/2006 - "A recurrent mutation of FBN1 gene resulted in an arginine-to-cysteine residue (p.R62C), is responsible for the patients with isolated ectopia lentis in a Chinese family."
8.	FibrillinsIBA 01/01/2004 - "Isolated ectopia lentis: potential role of matrix metalloproteinases in fibrillin degradation."

Therapies and Procedures

1.	Intraocular Lenses (Intraocular Lens) 01/01/2021 - "Recurrent Intraocular Lens Dislocation in a Patient with Familial Ectopia Lentis."