Peripapillary chorioretinal lacunae in a girl with 3q21.3 to 3q22.1 microdeletion with features of Aicardi syndrome.

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.