Blog - Aicardi Syndrome

22year old female patient who is a known case of AICARDI SYNDROME came for routine eye check up. On examination BCVA was 6/6 with glasses in both eyes . Antersegment was with in normal limits. Fundus examination showed hypopigmented areas in both eyes s/o choroidal lacunae . macula was healthy.

Right eye fundus showing retinal lacunae and coloboma
Left eye fundus showing retinal lacunae

AICARDI SYNDROME

  • rare genetic malformation syndrome
  • partial or complete absence of a key structure in the brain called the corpus callosum
  • epileptic seizures in the form of infantile spasms
  • intellectual disability that is usually severe or moderate
  • retinal lacunae, coloboma, nystagmus, microphthalmia
  • problems in gastrointestinal tract
  • multiple tumours

TREATMENT:

  • Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays

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