Cataract Microcornea Syndrome

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Classification according to ICD-10
Q13.8 Other congenital malformations of the anterior segment of the eye
ICD-10 online (WHO version 2019)

The cataract microcornea syndrome is a very rare congenital disease with a combination of congenital cataract and microcornea .

The first description comes from 1952 by the American doctors M. Wallace Friedman and Edwinw S. Wright.

distribution

The frequency is unknown; more than 15 affected families have been reported to date. Inheritance occurs as an autosomal dominant or autosomal - recessive .

root cause

Depending on the underlying mutation , the following types can be distinguished:

Apparently there are a number of other genes whose mutations play a role.

Clinical manifestations

Clinical criteria are:

  • Manifestation in the newborn period
  • Microcornea with a diameter of less than 10 mm
  • mostly bilateral cataract of the posterior pole with opacities also in the lens periphery, progressing up to a total cataract in the 1st to 3rd decade of life

In addition, myopia , iris coloboma , sclerocornea and Peters anomaly can occur.

diagnosis

The diagnosis results from the ophthalmological examination .

Differential diagnosis

Other syndromes with the main symptoms of microcornea and congenital cataract must be differentiated .

therapy

Treatment is surgically based on cataract surgery .

literature

  • KJ Wang, S. Wang, NQ Cao, YB Yan, SQ Zhu: A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1 / βA3-crystallin heteromer but not the βB1-crystallin homomer. In: Human Mutation . Volume 32, number 3, March 2011, pp. E2050 – E2060, doi: 10.1002 / humu.21436 , PMID 21972112 , PMC 3087119 (free full text).
  • S. Hu, B. Wang, Z. Zhou, G. Zhou, J. Wang, X. Ma, Y. Qi: A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree. In: Molecular vision. Volume 16, August 2010, pp. 1585-1592, PMID 20806042 , PMC 2927419 (free full text).
  • V. Vanita, JR Singh, JF Hejtmancik, P. Nuernberg, HC Hennies, D. Singh, K. Sperling: A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family. In: Molecular vision. Volume 12, May 2006, pp. 518-522, PMID 16735993 .

Individual evidence

  1. ↑ a b c d e f Cataract-Microcornea Syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ MW FRIEDMAN, ES WRIGHT: Hereditary microcornea and cataract in five generations. In: American journal of ophthalmology. Volume 35, Number 7, July 1952, pp. 1017-1021, doi: 10.1016 / 0002-9394 (52) 90567-9 , PMID 14933553 .
  3. ↑ Cataract 1, multiple types.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ Cataract 3, multiple types.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ Cataract 4, multiple types.  In: Online Mendelian Inheritance in Man . (English)
  6. ^ Cataract 9, multiple types.  In: Online Mendelian Inheritance in Man . (English)
  7. ↑ P. Chen, Y. Dai, X. Wu, Y. Wang, S. Sun, J. Xiao, Q. Zhang, L. Guan, X. Zhao, X. Hao, R. Wu, L. Xie: Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome. In: Investigative ophthalmology & visual science. Volume 55, number 12, November 2014, pp. 8031-8043, doi: 10.1167 / iovs.14-14098 , PMID 25406294 .
  8. ↑ S. Wang, WJ Zhao, H. Liu, H. Gong, YB Yan: Increasing βB1-crystallin sensitivity to proteolysis caused by the congenital cataract-microcornea syndrome mutation S129R. In: Biochimica et Biophysica Acta . Volume 1832, number 2, February 2013, pp. 302-311, doi: 10.1016 / j.bbadis.2012.11.005 , PMID 23159606 .
  9. ↑ L. Hansen, H. Eiberg, T. Rosenberg: Novel MAF mutation in a family with congenital cataract-microcornea syndrome. In: Molecular vision. Volume 13, October 2007, pp. 2019-2022, PMID 17982426 .

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