Okülomotor apraksi Tip 2’nin oküler elektrofizyolojik özellikleri: bir olgu sunumu

Abstract

Congenital oculomotor apraxia is a disease caused by the autosomal recessive SETX mutation. A 28-year-old male with congenital oculomotor apraxia had gait ataxia for the past three years. He had dysmetria, dysdiadokinesia, and areflexia on physical examination. Visual evoked potentials and electroretinography amplitudes were found to be low. The patient’s alpha-fetoprotein was high and the albumin level was normal. Craniocervical magnetic resonance imaging was consistent with diffuse cerebellar atrophy. The mutation p.Thr2154Met (c.6461C> T) previously published in the SETX gene of the index individual was observed as homozygous by whole-exome sequencing analysis. The mutant gene may have a direct effect on photoreceptors in the retina.