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 .