Ectopia lentis syndrome

Classification according to ICD-10
Q12.1	Congenital lens displacement
ICD-10 online (WHO version 2019)

The ectopia lentis syndrome is a very rare congenital disease with the main feature of a congenital lens dislocation (ectopia of the lens) usually on both sides.

Synonyms are: Latin Ektopia lentis congenita ; English Isolated ectopia lentis; Ectopia lentis syndrome; Familial ectopia lentis

Classification

According to clinical criteria, a distinction can be made between:

Isolated shape
Family form
Syndromic form in the context of some other syndromes
Homocystinuria
Weill-Marchesani syndrome
Marfan's Syndrome
Marshall Syndrome
Pseudoexfoliation syndrome
Sulphite oxidase deficiency

Also at:

Blepharoptosis - myopia - lens ectopy
Noble Bass Sherman Syndrome
Megalocornea - spherophakia - secondary glaucoma

root cause

In some patients was mutation in the FBN1 - gene detected encoding fibrillin 1, so that these are not as "isolated form", but as part of a spectrum of fibrillinopathies in connection with the Marfan syndrome are to be considered.

Individual evidence

↑ Ectopia lentis, isolated. In: Orphanet (Rare Disease Database).
↑ Ectopia lentis, familial. In: Online Mendelian Inheritance in Man . (English)
↑ Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
↑ Blepharoptosis - Myopia - Lens Ectopy. In: Orphanet (Rare Disease Database).
↑ Ectopia lentis - chorioretinal dystrophy - myopia. In: Orphanet (Rare Disease Database).
↑ Megalocornea - spherophakia - secondary glaucoma. In: Orphanet (Rare Disease Database).
↑ Y. Zhai, W. Wang, YN Zhu, JY Li, YH Yu, KR Lai, K. Yao: A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family. In: International journal of ophthalmology. Vol. 8, No. 5, 2015, pp. 855-859, doi: 10.3980 / j.issn.2222-3959.2015.05.01 , PMID 26558191 , PMC 4631002 (free full text).
↑ A. Chandra, D. Patel, JA Aragon-Martin, A. Pinard, G. Collod-Béroud, P. Comeglio, C. Boileau, L. Faivre, D. Charteris, AH Child, G. Arno: The revised ghent nosology; reclassifying isolated ectopia lentis. In: Clinical genetics. Vol. 87, No. 3, March 2015, pp. 284-287, doi: 10.1111 / cge.12358 , PMID 24635535 .

Web links

The Marfan Foundation

[1] Ectopia lentis, isolated. In: Orphanet (Rare Disease Database).

[2] Ectopia lentis, familial. In: Online Mendelian Inheritance in Man . (English)

[Leiber-3] Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .

[4] Blepharoptosis - Myopia - Lens Ectopy. In: Orphanet (Rare Disease Database).

[5] Ectopia lentis - chorioretinal dystrophy - myopia. In: Orphanet (Rare Disease Database).

[6] Megalocornea - spherophakia - secondary glaucoma. In: Orphanet (Rare Disease Database).

[7] Y. Zhai, W. Wang, YN Zhu, JY Li, YH Yu, KR Lai, K. Yao: A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family. In: International journal of ophthalmology. Vol. 8, No. 5, 2015, pp. 855-859, doi: 10.3980 / j.issn.2222-3959.2015.05.01 , PMID 26558191 , PMC 4631002 (free full text).

[8] A. Chandra, D. Patel, JA Aragon-Martin, A. Pinard, G. Collod-Béroud, P. Comeglio, C. Boileau, L. Faivre, D. Charteris, AH Child, G. Arno: The revised ghent nosology; reclassifying isolated ectopia lentis. In: Clinical genetics. Vol. 87, No. 3, March 2015, pp. 284-287, doi: 10.1111 / cge.12358 , PMID 24635535 .