Author:

Abstract

Aim: To report the ocular and general features of a group of patients with congenital ocular motor apraxia (COMA).

Methods: Twenty-one patients with COMA who presented to the clinic, were seen following a review of the clinical database or were siblings of presenting cases are reported. All had a full paediatric, orthoptic and ophthalmic examination including video recording of head movements and determination of family incidence. Thirteen patients had a radiological examination.

Results: All patients showed the typical clinical features of COMA. In addition there was a variety of orthoptic, ophthalmic, paediatric and radiological findings. Half of the group had myopia, which ranged from –0.50 to –19 DS. There were 7 familial cases of COMA, which were associated with consanguineous marriage.

Conclusion: Patients with COMA may have a wide spectrum of ophthalmic and general abnormalities. The presence of familial cases within the group supports the theory of a genetic basis for some eases of COMA.

Keywords: Autosomal recessive, Congenital ocular motor apraxia (COMA), Consanguinity, Saccades