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Peripapillary Chorioretinal Lacunae in a Girl With 3q21.3 to 3q22.1 Microdeletion With Features of Aicardi Syndrome

Eileen Broomall, MD1; Deborah Renaud, MD1,2,3; Rafif Ghadban, MD2; Ralitza Gavrilova, MD1,3; Michael C. Brodsky, MD1,2
[+] Author Affiliations
1Department of Neurology, Mayo Clinic, Rochester, Minnesota
2Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota
3Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota
JAMA Ophthalmol. 2013;131(11):1485-1487. doi:10.1001/jamaophthalmol.2013.4830.
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Aicardi syndrome is characterized by the classic triad of agenesis of the corpus callosum, seizures, and peripapillary chorioretinal lacunae.1 This disorder occurs exclusively in girls and XXY boys and is presumed to be inherited in an X-linked dominant pattern, although the causative genes involved have not been identified. We examined a girl with a microdeletion on chromosome 3 who was found to have bilateral peripapillary chorioretinal lacunae with other features of Aicardi syndrome.

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Figure 1.
Retinal Photographs

High-magnification photographs showing bilateral peripapillary chorioretinal lacunae in the right (A) and left (B) eyes and low-magnification photographs showing multiple midperipheral oblong depigmented areas in the right (C) and left (D) eyes.

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Figure 2.
Magnetic Resonance Images

A, T1-weighted sagittal magnetic resonance image demonstrating minimal hypoplasia of the corpus callosum (arrow). B, T2-weighted axial magnetic resonance image demonstrating cortical migration anomaly involving the parasagittal right parietal lobe with thickened gyrus (small arrow) abutting the lateral ventricle. There is also bilateral white matter hypoplasia with dilation of the posterior horn of the left lateral ventricle (large arrow) and a cavum septum pellucidum (asterisk).

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