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

Abstract

tions in the literature. This patient uniquely presented with a more dramatic macular pattern at a much later age than an average patient with CDSRR and had neither nyctalopia nor dyschromatopsia. This would suggest not only that the heterogeneity of phenotypes for CDSRR is much broader than the literature indicates but also that the patient's 2 novel mutations are mild, having resulted in compound heterozygosity associated with a late presenting phenotype.

Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination

“…Two cases of de novo deletions in 1p36 (Bursztejn et al, ) and 3q21.3q22.1 (Broomall, Renaud, Ghadban, Gavrilova, & Brodsky, ) have also been reported. However, the individual with the 1p36 deletion did not exhibit CRL (Bursztejn et al, ), whereas the individual with the 3q21.3q22.1 deletion had bilateral peripapillary CRL and thinning of the corpus callosum, however her facial features did not correspond to those of AIC (Broomall et al, ). These autosomal findings, although interesting, were found in affected individuals whose features do not fit the typical AIC diagnosis and may therefore be phenocopies of AIC.…”

A rare case of bilateral vitreoretinopathy of Aicardi syndrome

“… 12 In our patient, the eye blinking episodes were likely an atypical absence seizure, which has been reported in the form of staring spells. 1 In addition, spasticity was also noted at 1 year old during clinical follow-up.…”

“…Aicardi syndrome is a rare genetic disorder seen almost exclusively in females, with presumed X-linked dominant inheritance. 1 It is characterized by a triad of infantile spasm, complete or partial agenesis of the corpus callosum, and chorioretinal lacunae. 2 Other major or supporting ophthalmic features that form part of the diagnostic criteria include optic nerve head hypoplasia, optic disc coloboma, and microphthalmia.…”

Congenital Optic Nerve Anomalies

“…241,242 Even though chorioretinal lacunae are virtually pathognomonic of Aicardi syndrome, similar lacunae have been found in other genetic conditions. 236,243 A diagnosis of Aicardi syndrome should thus be based on the full clinical picture and characteristic triad. Multiple neurologic and neuroradiographic associations have been identified, including cortical malformations, cysts, cerebral asymmetry, choroid plexus papillomas, and Dandy-Walker malformations.…”