Ocular Electrophysiological Features of Oculomotor Apraxia Type 2: A Case Report.

Congenitaloculomotor apraxia (AOA) is a disease caused by the autosomal recessive SETX mutation. A 28-year-old malewith congenital oculomotor apraxia had gait ataxia for the past three years. Hehad dysmetria, dysdiadokinesia, and areflexia on physical examination. Visualevoked potentials and electroretinography amplitudes were found to be low. Thepatient's AFP was high and the albumin level was normal. Craniocervical MRI wasconsistent with diffuse cerebellar atrophy. The mutation p.Thr2154Met(c.6461C> T) previously published in the SETXgene of the index individual was observed as homozygous by whole-exomesequencing analysis. The mutant gene may have a direct effect on photoreceptorsin the retina.