Pseudoexfoliation syndrome

Classification according to ICD-10
H40.1	Primary wide-angle glaucoma
ICD-10 online (WHO version 2019)

The Pseudoexfoliation (PEX) is a systemic disease with amyloidosis -like deposition of proteins in the front part of the eye and other organs .

Synonyms are: pseudoexfoliation lentis syndrome; Glaucoma capsulare; Exfoliation glaucoma; XFG; pseudoexfoliation glaucoma; PEXG; Exfoliation syndrome

It was first described in 1917 by the Finnish ophthalmologist John G. Lindberg

The name pseudoexfoliation was proposed by the American ophthalmologist Georgiana Dvorak-Theobald in 1953.

distribution

The frequency is given as 1.5 - 6% and increases with age. Women are affected 3 times more often.

root cause

The cause is not yet known; increased concentrations of transforming growth factor (TGF-β1), decreased activity of enzymes for proteolysis , creeping inflammation and oxidative stress are involved in the fibrotic deposition process.

Partial were mutations in LOXL1 - gene on chromosome 15 locus q24.1 found which encodes lysyl oxidase-like 1, a cross-linking matrix enzyme.

Variants in the CNTNAP2 gene on chromosome 7 at q35-q36 have also been described.

Clinical manifestations

Clinical criteria are:

Disc-like deposits of gray (fine-fibrillar) material on the front surface of the eye lens and in the corner of the chamber
Iris shivering
Lens dislocation
Rubeosis iridis
Secondary optic atrophy
in about 50% pseudoexfoliative glaucoma

Deposits can also be detected in other organs in the body, such as the heart , lungs , liver , kidneys or gallbladder .

therapy

The condition does not respond well to medication, so surgical treatment may be required.

literature

M. Batur, E. Seven, S. Tekin, T. Yasar: Anterior Lens Capsule and Iris Thicknesses in Pseudoexfoliation Syndrome. In: Current eye research. [Electronic publication before printing] September 2017, doi: 10.1080 / 02713683.2017.1338349 , PMID 28910163 .
N. Zimmermann, C. Erb: Immunoassay for matrix metalloproteinase-9 in tear fluid in patients with pseudoexfoliation syndrome - a pilot study. In: Clinical monthly sheets for ophthalmology. Vol. 230, No. 8, August 2013, pp. 804-807, doi: 10.1055 / s-0032-1328410 , PMID 23670526 .
E. Elhawy, G. Kamthan, CQ Dong, J. Danias: Pseudoexfoliation syndrome, a systemic disorder with ocular manifestations. In: Human genomics. Vol. 6, October 2012, p. 22, doi: 10.1186 / 1479-7364-6-22 , PMID 23157966 , PMC 3500235 (free full text) (review).

Web links

eyewiki

Individual evidence

↑ ^a ^b Entry on pseudoexfoliative glaucoma in Flexikon , a Wiki of the DocCheck company

↑ ^a ^b ^c 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 .

↑ ^a ^b ^c emedicine

↑ JG Lindberg: Kliniska Undersökningar över Depigmentering av Pupillarranden och Genome Lysbarheten av Iris and Case av Åldersstarr together with i Normala Ögon hos Gamla Personer. Thesis. Dissertation Helsingfors.

↑ A. Tarkkanen, T. Kivelä: John G. Lindberg and the discovery of exfoliation syndrome. In: Acta ophthalmologica Scandinavica. Vol. 80, No. 2, April 2002, pp. 151-154, PMID 11952480 .

↑ G. Dvorak-Theobald: Pseudoexfoliation of the lens capsule: relation to true exfoliation of the lens capsule as reported in the literature, and role in the production of glaucoma capsulocuticulare. In: Transactions of the American Ophthalmological Society. Vol. 51, 1953, pp. 385-407, PMID 13216790 , PMC 1312572 (free full text).

↑ U. Schlötzer-Schrehardt: New pathogenetic findings on the pseudoexfoliation syndrome / glaucoma. Therapeutically relevant? In: Der Ophthalmologe: Journal of the German Ophthalmological Society. Volume 109, Number 10, October 2012, pp. 944-951, doi: 10.1007 / s00347-012-2531-1 , PMID 23053330 (review).

^ Exfoliation syndrome. In: Online Mendelian Inheritance in Man . (English)

↑ F. Pasutto, M. Zenkel, U. Hoja, D. Berner, S. Uebe, F. Ferrazzi, J. Schödel, P. Liravi, M. Ozaki, D. Paoli, P. Frezzotti, T. Mizoguchi, p . Nakano, T. Kubota, S. Manabe, E. Salvi, P. Manunta, D. Cusi, C. Gieger, HE Wichmann, T. Aung, CC Khor, FE Kruse, A. Reis, U. Schlötzer-Schrehardt: Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1. In: Nature Communications . Vol. 8, May 2017, p. 15466, doi: 10.1038 / ncomms15466 , PMID 28534485 , PMC 5457519 (free full text).

↑ M. Krumbiegel, F. Pasutto, U. Schlötzer-Schrehardt, S. Uebe, M. Zenkel, CY Mardin, N. Weisschuh, D. Paoli, E. Gramer, C. Becker, AB Ekici, BH Weber, P. Nürnberg, FE Kruse, A. Reis: Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome. In: European journal of human genetics: EJHG. Vol. 19, No. 2, February 2011, pp. 186-193, doi: 10.1038 / ejhg.2010.144 , PMID 20808326 , PMC 3025781 (free full text).

^ R. Menapace: Pseudoexfoliation Syndrome and Cataract Surgery. Avoidance and Treatment of Complications. In: Der Ophthalmologe: Journal of the German Ophthalmological Society. Vol. 109, No. 10, October 2012, pp. 976-989, doi: 10.1007 / s00347-012-2533-z , PMID 23053332 (review).

[flexikon-1] Entry on pseudoexfoliative glaucoma in Flexikon , a Wiki of the DocCheck company

[Leiber-2] 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 .

[emed-3] ↑ ^a ^b ^c emedicine

[4] JG Lindberg: Kliniska Undersökningar över Depigmentering av Pupillarranden och Genome Lysbarheten av Iris and Case av Åldersstarr together with i Normala Ögon hos Gamla Personer. Thesis. Dissertation Helsingfors.

[5] A. Tarkkanen, T. Kivelä: John G. Lindberg and the discovery of exfoliation syndrome. In: Acta ophthalmologica Scandinavica. Vol. 80, No. 2, April 2002, pp. 151-154, PMID 11952480 .

[6] G. Dvorak-Theobald: Pseudoexfoliation of the lens capsule: relation to true exfoliation of the lens capsule as reported in the literature, and role in the production of glaucoma capsulocuticulare. In: Transactions of the American Ophthalmological Society. Vol. 51, 1953, pp. 385-407, PMID 13216790 , PMC 1312572 (free full text).

[7] U. Schlötzer-Schrehardt: New pathogenetic findings on the pseudoexfoliation syndrome / glaucoma. Therapeutically relevant? In: Der Ophthalmologe: Journal of the German Ophthalmological Society. Volume 109, Number 10, October 2012, pp. 944-951, doi: 10.1007 / s00347-012-2531-1 , PMID 23053330 (review).

[8] Exfoliation syndrome. In: Online Mendelian Inheritance in Man . (English)

[9] F. Pasutto, M. Zenkel, U. Hoja, D. Berner, S. Uebe, F. Ferrazzi, J. Schödel, P. Liravi, M. Ozaki, D. Paoli, P. Frezzotti, T. Mizoguchi, p . Nakano, T. Kubota, S. Manabe, E. Salvi, P. Manunta, D. Cusi, C. Gieger, HE Wichmann, T. Aung, CC Khor, FE Kruse, A. Reis, U. Schlötzer-Schrehardt: Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1. In: Nature Communications . Vol. 8, May 2017, p. 15466, doi: 10.1038 / ncomms15466 , PMID 28534485 , PMC 5457519 (free full text).

[10] M. Krumbiegel, F. Pasutto, U. Schlötzer-Schrehardt, S. Uebe, M. Zenkel, CY Mardin, N. Weisschuh, D. Paoli, E. Gramer, C. Becker, AB Ekici, BH Weber, P. Nürnberg, FE Kruse, A. Reis: Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome. In: European journal of human genetics: EJHG. Vol. 19, No. 2, February 2011, pp. 186-193, doi: 10.1038 / ejhg.2010.144 , PMID 20808326 , PMC 3025781 (free full text).

[11] R. Menapace: Pseudoexfoliation Syndrome and Cataract Surgery. Avoidance and Treatment of Complications. In: Der Ophthalmologe: Journal of the German Ophthalmological Society. Vol. 109, No. 10, October 2012, pp. 976-989, doi: 10.1007 / s00347-012-2533-z , PMID 23053332 (review).