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 |