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Ocular features in Aicardi syndrome: A case report
Sebastian Sirek1,2, Erita Filipek1,3, Bogumiła Wójcik-Niklewska1,3
1Department of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia in Katowice, Katowice, Poland.
Medicine
|January 10, 2023
Summary
Aicardi syndrome, a rare genetic disorder, presents with corpus callosum malformations, chorioretinal lacunae, and infantile spasms. Early ophthalmic screening is crucial for diagnosis and visual prognosis in affected children.
Area of Science:
- Genetics
- Developmental Biology
- Ophthalmology
Background:
- Aicardi syndrome is a rare genetic disorder affecting 1 in 100,000 live births.
- Characterized by corpus callosum dysgenesis, chorioretinal lacunae, and infantile spasms.
- First described in 1965, it's a significant developmental malformation syndrome.
Observation:
- A case study of a 34-month-old girl diagnosed with Aicardi syndrome.
- Diagnostic methods included fundus imaging, medical history, karyotype, and DNA microarrays.
- Further investigations involved B-scan ultrasonography and electrophysiological testing.
Findings:
- Fundoscopy revealed bilateral optic disc colobomas and extensive posterior pole chorioretinal lacunae.
- Flash visual evoked potentials (FVEP) showed a reduced P2 amplitude.
- B-scan ultrasonography confirmed optic disc lesions consistent with coloboma.
Implications:
- Highlights the importance of regular ophthalmic checkups for children with congenital central nervous system malformations.
- Emphasizes the role of ophthalmology in early diagnosis and prognosis of visual development in Aicardi syndrome.
- Suggests comprehensive eye examinations are vital for managing patients with this rare genetic disorder.
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