MN Oftalmoloji, no.4, pp.1-5, 2023 (Peer-Reviewed Journal)
Congenital
oculomotor apraxia (AOA) 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 AFP was high and the albumin level was normal. Craniocervical MRI 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.