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Bulgarian Review of Ophthalmology

Exotropia associated with syndromes

B. Mihaylova, G. Dimitrova


Introduction: Exotropia is strabismus with a deviation of visual axes outwards. It is considerably less frequent than esotropia. When present early in life, it is usually hereditary. Most common form is the intermittent exotropia with excess of divergence or insuf? ciency of convergence, which could either compensate with time or turn into a manifest strabismus. Exotropia is present in some syndromes as well.

Aim: To demonstrate rare syndromes in which one of the symptom is exotropia.

Material and methods: Three cases with exotropia present at birth are presented. Ophthalmologic and orthoptic methods of examination are used.

Results: One of the cases is a genetically proven syndrome of Angelmann, second case is a chromosomal disease 46,XX,add(17q25), clinically manifested as Smith-Lemli-Opitz syndrome and the third case is syndrome with congenital abnormalities of extremities.

Conclusion: When exotropia is present very early in life and there is not a family history for exotropia, most probably it is a part of a syndrome and interdisciplinary approach is required.


exotropia; Angelmann syndrome; Smith-Lemli-Opitz syndrome; syndrome of congenital anomalies with predominant damage of extremities

Full Text


American Academy of Ophthalmology 2011-2012. Pediatric ophthalmology and strabismus. Exodeviations. Infantile exotropia. pp. 104.

Angelman H. `Puppet children`. A report of three cases. Dev Med Child Neurol 1965; 7:681-8.

Buckley RH, Dinno N, Wber P. Angelman syndrome: are the estimates too low? Am J Med Genet 1998; 80:385-90.

Clayton-Smith J, Laan L. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet 2003; 40:87-95.

Hunter D, Ellis F. Prevalence of systemic and ocular disease in infantile exotropia: comparison with infantile esotropia. Ophthalmol 1999; 106(10):1951-6.

Jiang Y, Lev-Lehman E, Bresler J, et al. Genetics of Angelman syndrome. Am J Hum Genet 1999; 65:1-6.

Michieletto P, Bonanni P, Pensiero S. Ophthalmic findings in Angelman syndrome. J AAPOS 2011; 15(2):151-61.

Williams Ch, Angelman H, Clayton- Smith J, et al. Angelman syndrome: consensus for diagnostic criteria. Am J Med Genet 1995; 56:237-8.



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About The Authors

B. Mihaylova
Department of Ophthalmology, Medical University `Alexandrovska` University Hospital, Sofia

G. Dimitrova
Department of Ophthalmology, Medical University `Alexandrovska` University Hospital, Sofia