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Table 1 Clinical Features of CFEOM.

From: Clinical and surgical data of affected members of a classic CFEOM 1 family

Clinical Feature

Frequency Observed

Restrictive Ophthalmoplegia (positive forced duction tests)

Required

Congenital

Required

Non-progressive

Required

Inelasticity and decreased contractility of one or more extraocular muscles

Required

Ptosis, unilateral or bilateral

Very Common

Downward deviation of eyes and retroflexion of head

Very Common

Normal pupillary function

Very Common

Inexpressive Facies

Very Common

Reduced visual acuity

Common

Astigmatism

Common

Nystagmus

Common

Inelastic and fragile conjunctiva

Common