Bilateral congenital vertical gaze disorders: congenital muscle fibrosis or congenital central nervous abnormality?

Abstract

Congenital disorders of vertical gaze are uncommon and current terminology such as double elevator palsy, congenital fibrosis syndrome and congenital ocular motor palsy poorly reflect the underlying pathophysiology. Congenital fibrosis syndrome appears to be the most common of these disorders. We describe nine additional patients with congenital vertical motility restrictions who fit the descriptions of this syndrome. Six of the patients had positive family histories and came from consanguineous marriages. Numerous clinical features, including supranuclear disturbances of ocular motility, point to a central etiology rather than a primary muscle disorder, as 'congenital fibrosis syndrome' suggests.

Key Words:

• Congenital fibrosis syndrome
• vertical gaze
• supranuclear disorders of gaze
• extraocular muscle