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

Şener H., Gülmez Sevim D., Gültekin M., Şimşir G.

MN Oftalmoloji, sa.4, ss.1-5, 2023 (Hakemli Dergi)

  • Yayın Türü: Makale / Vaka Takdimi
  • Basım Tarihi: 2023
  • Dergi Adı: MN Oftalmoloji
  • Derginin Tarandığı İndeksler: TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.1-5
  • Erciyes Üniversitesi Adresli: Evet

Özet

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.