Blepharophimosis

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Classification according to ICD-10
Q10.3 Other congenital malformations of the eyelid
ICD-10 online (WHO version 2019)

Blepharophimosis , also known as blepharophimosis syndrome , is the term used in ophthalmology for a very rare, mostly genetically determined narrowing of the eyelid ( rima palpebrarum ) in the horizontal direction.

causes

Blepharophimosis syndrome can be acquired after chronic blepharitis ( inflammation of the eyelids) or trachoma (bacterial inflammation of the eye), for example. The most common cause, however, is a genetic defect. In these cases the blepharophimosis either a autosomal - dominant inheritance inherited or by a new mutation acquired. The affected FOXL2 gene is located on chromosome 3 gene locus q23 in humans. Blepharophimosis can also occur in syndromes with other mutations, such as van den Ende Gupta syndrome .

Symptoms and Differentiation

Blepharophimosis syndrome is characterized by a shortening of the horizontal eyelid and a vertical shortening of the upper eyelid tissue. Structurally, however, the lids are completely normal.

The clinical picture of blepharophimosis often occurs together with a "Mongolian fold " ( epicanthus medialis ), with drooping of one or both eyelids ( ptosis ) and with a large distance between the eyes ( hypertelorism or telekanthus ). In such cases, one speaks of a blepharophimosis-epicanthus-inversus-ptosis syndrome or a blepharophimosis-ptosis-epicanthus-inversus syndrome ( BPES ).

Two subtypes are distinguished in the BPES:

  • In type 1, in addition to the lid anomalies in girls, there is also ovarian insufficiency (malfunction in the ovaries ), which in addition to infertility also causes premature menopause .
  • Type 2, on the other hand, only shows the lid anomalies.

Amblyopia (weak vision) and strabismus (strabismus) can also be observed in every fifth patient affected by blepharophimosis syndrome . Lacrimal duct abnormalities and refractive problems are also common.

therapy

Surgical interventions can lead to improvements.

Initial description

The symptoms of blepharophimosis syndrome were probably first described by P. Vignes in 1889.

See also

literature

  • Albert J. Augustin: Ophthalmology. 2nd, completely revised and expanded edition. Springer, Berlin et al. 2001, ISBN 3-540-65947-1 .
  • Ravelo V. Argamaso: An adjustable fascia lata sling for the correction of blepharoptosis. In: British Journal of Plastic Surgery. Vol. 27, No. 3, 1974, ISSN  0007-1226 , pp. 274-275, doi: 10.1016 / S0007-1226 (74) 90087-3 , PMID 4418929 .
  • Verayuth Praphanphoj, Barbara K. Goodman, George H. Thomas, Kerry M. Niel, Carmel Toomes, Michael J. Dixon, Michael T. Geraghtya: Molecular cytogenetic evaluation in a patient with a translocation (3; 21) associated with blepharophimosis, ptosis , epicanthus inversus syndrome (BPES). In: Genomics. Vol. 65, No. 1, 2000, ISSN  0888-7543 , pp. 67-69, doi: 10.1006 / geno.2000.6157 , PMID 10777667 .

Individual evidence

  1. ↑ R. Kuckelkorn, M. Reim: About a family with blepharophimosis, ptosis, Epikanthus inversus and Telekanthus - appearance of the hereditary trait over five generations. In: Clinical monthly sheets for ophthalmology. Vol. 201, No. 11, 1992, ISSN  0023-2165 , pp. 325-329, doi: 10.1055 / s-2008-1045911 .
  2. ↑ Tamison Jewett, P. Nagesh Rao, R. Gray Weaver, William Stewart, Ioan T. Thomas, Mark J. Pettenati: Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: Review and gene assignment to the interface of band 3q22.3 and 3q23. In: American Journal of Medical Genetics. Vol. 47, No. 8, 2005, ISSN  1552-4825 , pp. 1147-1150, doi: 10.1002 / ajmg.1320470802 .
  3. ↑ J. Zlotogora, M. Sagi, T. Cohen: The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. In: American Journal of Human Genetics. Vol. 35, No. 5, 1983, pp. 1020-1027, PMID 6613996 .
  4. ↑ A. Callahan: Surgical correction of blepharophimosis syndrome. In: Transactions of the American Academy of Ophthalmology and Otolaryngology. Vol. 77, 1973, ISSN  0002-7154 , pp. 687-695, PMID 4594183 .
  5. ↑ P. Vignes: Epicanthus héréditaire. In: Revue Générale d'Ophtalmologie. Vol. 8, 1889, ISSN  0399-4228 , pp. 438-439.
  6. ^ Adam H. Balen et al. (Ed.): Pediatric and Adolescent Gynaecology. A multidisciplinary approach. Cambridge University Press, Cambridge 2004, ISBN 0-521-80961-4 , p. 381.

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