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| Individual with CFEOM1 and Marcus Gunn Syndrome-he controls his left eye position using his mouth position. |
Marcus Gunn Jaw Winking Syndrome can occur in association with complex strabismus conditions such as Duane syndrome and CFEOM1,2. The boy to the right has bilateral congenital ptosis, upgaze limitation and, prior to extrocular muscle surgery, exhibited the Marcus Gunn phenomenon.
The majority of cases of this disorder are reported to be sporadic (isolated), although there are a few reports in the scientific literature of familial Marcus Gunn syndrome3.
Please contact Caroline Andrews to obtain further information on the genetic studies that we are undertaking and if you are interested in enrolling a patient or participating yourself.
References
Online Mendelian Inheritance in Man (OMIM). Victor A. McKusick, Editor, Johns Hopkins University, last updated 11/6/1994 (entry number #154600) Home page: http://www3.ncbi.nlm.nih.gov/Omim/.
1. Brodsky, M. Hereditary external ophthalmoplegia synergistic divergence, jaw winking, and oculocutaneous hypopigmentation: a congenital fibrosis syndrome caused by deficient innervation to extraocular muscles. Ophthalmology 105, 717-725 (1998).
2. Abeloos, M.-C. et al. Fibrose Congenitale des muscles oculaires: un diagnostic pour plusieurs tableaux cliniques. Bull Soc Belge Ophtalmol 239, 61-74 (1990).
3. Kirkham, T. H. Familial Marcus Gunn phenomenon. Brit. J. Ophthal. 53: 282-283, 1969.
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