Hereditary external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation

A congenital fibrosis syndrome caused by deficient innervation to extraocular muscles

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47 Citations (Scopus)

Abstract

Background: The congenital fibrosis syndrome is a hereditary form of external ophthalmoplegia that is considered to be a primary myopathy. Purpose: To document the coexistence of two distinct forms of ocular motor synkinesis in a subgroup of patients with congenital fibrosis syndrome. Methods: Clinical and intraoperative examination results and extraocular muscle biopsy specimens from four patients with congenital fibrosis syndrome were studied. Results: Three patients displayed a variant of synergistic divergence characterized by simultaneous abduction with intorsion and depression of the synkinetically abducting eye. Three patients had variant of Marcus Gunn jaw winking characterized by elevation of a ptotic eyelid during mouth opening. Three patients had oculocutaneous hypopigmentation. Conclusions: A subgroup of patients with congenital fibrosis syndrome display two distinct synkinetic ocular movements in conjunction with oculocutaneous hypopigmentation. The patterns of neuronal misdirection implicate a regional innervational disturbance involving cranial nerves III through VI as the underlying cause of diffuse hereditary ophthalmoplegia in these patients.

Original languageEnglish (US)
Pages (from-to)717-725
Number of pages9
JournalOphthalmology
Volume105
Issue number4
DOIs
StatePublished - Apr 1 1998
Externally publishedYes

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Oculomotor Muscles
Hypopigmentation
Ophthalmoplegia
Synkinesis
Oculomotor Nerve
Muscular Diseases
Eyelids
Eye Movements
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation
Congenital Fibrosis of the Extraocular Muscles
Mouth
Biopsy

ASJC Scopus subject areas

  • Ophthalmology

Cite this

@article{622b9e6d42fe4e93b70434e684b93c95,
title = "Hereditary external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation: A congenital fibrosis syndrome caused by deficient innervation to extraocular muscles",
abstract = "Background: The congenital fibrosis syndrome is a hereditary form of external ophthalmoplegia that is considered to be a primary myopathy. Purpose: To document the coexistence of two distinct forms of ocular motor synkinesis in a subgroup of patients with congenital fibrosis syndrome. Methods: Clinical and intraoperative examination results and extraocular muscle biopsy specimens from four patients with congenital fibrosis syndrome were studied. Results: Three patients displayed a variant of synergistic divergence characterized by simultaneous abduction with intorsion and depression of the synkinetically abducting eye. Three patients had variant of Marcus Gunn jaw winking characterized by elevation of a ptotic eyelid during mouth opening. Three patients had oculocutaneous hypopigmentation. Conclusions: A subgroup of patients with congenital fibrosis syndrome display two distinct synkinetic ocular movements in conjunction with oculocutaneous hypopigmentation. The patterns of neuronal misdirection implicate a regional innervational disturbance involving cranial nerves III through VI as the underlying cause of diffuse hereditary ophthalmoplegia in these patients.",
author = "Brodsky, {Michael C}",
year = "1998",
month = "4",
day = "1",
doi = "10.1016/S0161-6420(98)94029-5",
language = "English (US)",
volume = "105",
pages = "717--725",
journal = "Ophthalmology",
issn = "0161-6420",
publisher = "Elsevier Inc.",
number = "4",

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TY - JOUR

T1 - Hereditary external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation

T2 - A congenital fibrosis syndrome caused by deficient innervation to extraocular muscles

AU - Brodsky, Michael C

PY - 1998/4/1

Y1 - 1998/4/1

N2 - Background: The congenital fibrosis syndrome is a hereditary form of external ophthalmoplegia that is considered to be a primary myopathy. Purpose: To document the coexistence of two distinct forms of ocular motor synkinesis in a subgroup of patients with congenital fibrosis syndrome. Methods: Clinical and intraoperative examination results and extraocular muscle biopsy specimens from four patients with congenital fibrosis syndrome were studied. Results: Three patients displayed a variant of synergistic divergence characterized by simultaneous abduction with intorsion and depression of the synkinetically abducting eye. Three patients had variant of Marcus Gunn jaw winking characterized by elevation of a ptotic eyelid during mouth opening. Three patients had oculocutaneous hypopigmentation. Conclusions: A subgroup of patients with congenital fibrosis syndrome display two distinct synkinetic ocular movements in conjunction with oculocutaneous hypopigmentation. The patterns of neuronal misdirection implicate a regional innervational disturbance involving cranial nerves III through VI as the underlying cause of diffuse hereditary ophthalmoplegia in these patients.

AB - Background: The congenital fibrosis syndrome is a hereditary form of external ophthalmoplegia that is considered to be a primary myopathy. Purpose: To document the coexistence of two distinct forms of ocular motor synkinesis in a subgroup of patients with congenital fibrosis syndrome. Methods: Clinical and intraoperative examination results and extraocular muscle biopsy specimens from four patients with congenital fibrosis syndrome were studied. Results: Three patients displayed a variant of synergistic divergence characterized by simultaneous abduction with intorsion and depression of the synkinetically abducting eye. Three patients had variant of Marcus Gunn jaw winking characterized by elevation of a ptotic eyelid during mouth opening. Three patients had oculocutaneous hypopigmentation. Conclusions: A subgroup of patients with congenital fibrosis syndrome display two distinct synkinetic ocular movements in conjunction with oculocutaneous hypopigmentation. The patterns of neuronal misdirection implicate a regional innervational disturbance involving cranial nerves III through VI as the underlying cause of diffuse hereditary ophthalmoplegia in these patients.

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