Hereditary external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation: A congenital fibrosis syndrome caused by deficient innervation to extraocular muscles

Ophthalmology

Volumn 105, Issue 4, 1998, Pages 717-725

  Brodsky, Michael C ^a,b  

^a UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^b ARKANSAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; DISEASE ASSOCIATION; DIVERGENT STRABISMUS; EXTERNAL OPHTHALMOPLEGIA; EXTRAOCULAR MUSCLE; HUMAN; JAW MOVEMENT; MALE; MUSCLE BIOPSY; MUSCLE INNERVATION; OCULOCUTANEOUS ALBINISM; PRIORITY JOURNAL; PTOSIS;

EID: 0031894884     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0161-6420(98)94029-5     Document Type: Article

References (42)

1. Crawford JS. Congenital fibrosis syndrome. Can J Ophthalmol 1970;5:331-6.
2. Harley RD, Rodrigues MM, Crawford JS. Congenital fibrosis of the extraocular muscles. Trans Am Ophthalmol Soc 1978;76:197-226.
3. Apt L, Axelrod RN. Generalized fibrosis of the extraocular muscles. Am J Ophthalmol 1978;85:822-9.
4. Engel EC, Marondel I, Houtman WA, et al. Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. Am J Hum Genet 1995;57:1086-94.
5. Laughlin RC. Congenital fibrosis of the extraocular muscles. A report of six cases. Am J Ophthalmol 1956;41:432-8.
6. Rumpf M. Fibrose du muscle droit inférieur, anomalies d'insertions et aplasies musculaires, une cause rare de troubles héréditaires non progressifs et congénitaux de la motilité oculaire. Annales D'Oculistique 1974;207:831-8.
7. Vossius A. Zwei Fälle von angeborener, fast vollständiger Unbeweglichkeit beider Augen und der oberen Augenlider. Beitr z Augenh 1892;5:1-10.
8. Ferrer JA. General Fibrosis Syndrome. In: Fells P, ed. The second congress of the International Strabismological Association: transactions of a Congress held at Marseilles, France, May 20, 1974. Marseilles: Diffusion Generale de Librairie 1976;352-61.
9. Brodsky MC, Pollock SC, Buckley EG. Neural misdirection in congenital ocular fibrosis syndrome: implications and pathogenesis. J Pediatr Ophthalmol Strabismus 1989; 26:159-61.
10. Hamed LM, Dennehy PJ, Lingua RW. Synergistic divergence and jaw-winking phenomenon. J Pediatr Ophthalmol Strabismus 1990;27:88-90.
11. Boergen KP, Lorenz B, Müller-Höcker J. Das Kongenitale Fibrosesyndrom. Überlegungen zur Ätiologie, Genetik und Chirurgischen. Therapie. Klin Monatsbl Augenheilkd 1990; 197:118-22.
12. Abeloos M-C, Cordonnier M, van Nechel C, et al. Fibrose congénitale des muscles oculaires: un diagnostic pour plusieurs tableaux cliniques. Bull Soc Belge Ophthalmol 1990;239:61-74.
13. Traboulsi EI, Jaafar MD, Kattan HM, Parks MM. Congenital fibrosis of the extraocular muscles: report of 24 cases illustrating the clinical spectrum and surgical management Am Orthop J 1993;43:45-53.
14. Wilcox LM, Jr, Gittinger JW, Jr, Breinin GM. Congenital adduction palsy and synergistic divergence. Am J Ophthalmol 1981;91:1-7.
15. Wagner RS, Caputo AR, Frohman LP. Congenital unilateral adduction deficit with simultaneous abduction. A Variant at Duane's retraction syndrome. Ophthalmology 1987; 94:1049-53.
16. Cruysberg JR, Mtanda AT, Duinkerke-Eerola KU, Huygen PL. Congenital adduction palsy and synergistic divergence: a clinical and electro-oculographic study. Br J Ophthalmol 1989;73:68-75.
17. Hamed LM, Dennehy PJ, Lingua RW. Synergistic divergence and jaw-winking phenomenon. J Pediatr Ophthalmol Strabismus 1990;27:88-90.
18. Hamed LM, Lingua RW, Fanous MM, et al. Synergistic divergence: saccadic velocity analysis and surgical results. J Pediatr Ophthalmol Strabismus 1992;29:30-7.
19. DeRespinis PA, Caputo AR, Wagner RS, Guo S. Duane's retraction syndrome [published erratum appears in Surv Ophthalmol 1996;40:423]. Ophthalmology 1993;38:257-88.
20. Miller NR. Electrophysiology and pathology of Duane retraction syndrome. American Orthopotic Journal 1993; 43:5-14.
21. Breinin GM. Electromyography - a tool in ocular and neurologic diagnosis: II. Muscle palsies. Arch Ophthalmol 1957; 57:165-75.
22. Huber A. Electrophysiology of the retraction syndromes. Br J Ophthalmol 1974;58:293-300.
23. Kaban TJ, Smith K, Orton RB. Synergistic divergence associated with aberrant trigeminal innervation. Can J Ophthalmol 1994;29:146-50.
24. Cruysberg JR, Mtanda AT, Duinkerke-Eerola KU, Huygen PL. Congenital adduction palsy and synergistic divergence: a clinical and electro-oculographic study. Br J Ophthalmol 1989;73:68-75.
25. Sano K. Trigemino-Oculomotor synkineses. Neurologia Medico-Chirurgica 1959;1:29-51.
26. Heuck G. Ueber angeborenen vererbten Beweglichkeits-Defect der Augen [4 cases]. Klin Monatsbl Augenheilkd 1879;17:253-78.
27. Woodburn RT, Burkel WE. Essentials of Human Anatomy, 9th ed. New York: Oxford University Press, 1994;262.
28. Creel D. Problems of ocular miswiring in albinism, Duane's syndrome, and Marcus Gunn phenomenon. Int Ophthalmol Clin 1984;24:165-76.
29. Pratt SG, Beyer CK, Johnson CC. The Marcus-Gunn phenomenon. A review of 71 cases. Ophthalmology 1984; 91:27-30.
30. Wright KW, Liu GY-S, Murphree AL, et al. Double elevator palsy, ptosis, and jaw winking. American Orthoptic Journal 1989;39:143-50.
31. Fells P, Waddell E, Rodrigues M. Progressive, exaggerated A-pattern strabismus with presumed fibrosis of extraocular muscles. In: Reinecke RD, ed. Strabismus II: Proceedings of the Fourth Meeting at the International Strabismological Association, Oct. 25-29, 1982, Asilomar, CA. Orlando: Grune & Stratton, 1984;335-42.
32. Castanera De Molina A, Giner Muñoz ML. Surgical correction of the syndrome of "progressive exaggerated A-pattern strabismus with presumed fibrosis of extraocular muscles." Binocular Vision Quarterly 1991;6:201-7.
33. Houtman WA, van Weerden TW, Robinson PH, et al. Hereditary congenital external ophthalmoplegia. Ophthalmologica 1986;193:207-18.
34. Cibis G, Kies R, Lawwill T, Varghese G. Electromyography in congenital familial ophthalmoplegia. In: Reinecke RD, ed. Strabismus II: Proceedings of the Fourth Meeting at the International Strabismological Association, Oct. 25-29, 1982, Asilomar, CA. Orlando: Grune & Stratton, 1984.
35. Hupp SL, Williams JP, Curran JE. Computerized tomography in the diagnosis of the congenital fibrosis syndrome. J Clin Neuroophthalmol 1990;10:135-9.
36. Hertle RW, Katowitz JA, Young TL, et al. Congenital unilateral fibrosis, blepharoptosis, and enophthalmos syndrome. Ophthalmology 1992;99:347-55.
37. Simonsz HJ, Kolling GH, van Dijk B, Kaufmann H. Length-tension curves of human eye muscles during succinylcholine-induced contraction. Invest Ophthalmol Vis Sci 1988;29:1320-30.
38. Engle EC, Goumnerov BC, McKeown CA, et al. Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Ann Neurol 1997;41:314-25.
39. Hotchkiss MG, Miller NR, Clark AW, Green WR. Bilateral Duane's retraction syndrome. A clinical pathologic case report. Arch Ophthalmol 1980;98:870-4.
40. Miller NR, Kiel SM, Green WR, Clark AW. Unilateral Duane's retraction syndrome (Type 1). Arch Ophthalmol 1982;100:1468-72.
41. Fritzsch B, Nichols DH, Echelard Y, McMahon AP. Development of midbrain and anterior hindbrain ocular motoneurons in normal and Wnt-1 knockout mice. J Neurobiol 1995;27:457-69.
42. Porter JD, Baker RS. Absence of oculomotor and trochlear motoneurons leads to altered extraocular muscle development in the Wnt-1 null mutant mouse. Brain Res Dev Brain Res 1997;100:121-6.