Oculomotor apraxia Cogan type

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Disease Overview

Oculomotor apraxia Cogan type (COMA) is an eye condition characterized by a defect in side-to-side (horizontal) eye movements. Because of this, most patients with COMA have to turn their head in order to follow objects in side gaze. Typically, up-to-down (vertical) eye movements are unaffected.[3340][13260] Symptoms usually improve throughout the childhood and teenage years.[3340] COMA can also be associated with mild developmental delay and speech difficulties. Individuals with COMA may also have kidney disorders and underdevelopment of the part of cerebellum that separates the left and right hemisphere of the brain (cerebellar vermis).[3340][13259][13261] When other symptoms occur, COMA may be a symptom of other disorders, such as nephronophthisis or Joubert syndrome.[13259][13261] In many instances, the cause of COMA is not known; however, researchers suspect that it is inherited in an autosomal recessive inheritance pattern.[13259] Treatment for this condition is focused on managing the signs and symptoms in each individual.


Synonyms

  • Congenital oculomotor apraxia
  • Cogan's syndrome type 2
  • Saccade initiation failure congenital
  • COMA

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National Organization for Rare Disorders