BACKGROUND: Aicardi syndrome is a rare X-linked disorder that has been characterized classically by agenesis of the corpus callosum, seizures, and the finding of chorioretinal lacunae. This triad has been augmented more recently by central nervous system and ocular findings. The goal of this study was to determine how frequently other ophthalmologic findings are associated with Aicardi syndrome. METHODS: A single ophthalmologist recorded the ocular and adnexal findings of 40 girls with this disorder at the annual meeting of an Aicardi syndrome family support group. For each subject, the examiner performed facial anthropometrics, portable biomicroscopy, and, where feasible, indirect ophthalmoscopy. RESULTS: The most common findings were chorioretinal lacunae in 66 (88%) of 75 eyes and optic nerve abnormalities in 61 (81%) of 75 eyes. Other less common findings included persistent pupillary membrane in 4 (5%) of 79 eyes and anterior synechiae in 1 of 79 eyes (1%). CONCLUSIONS: Although the ophthalmic hallmark and defining feature of Aicardi syndrome is the cluster of distinctive chorioretinal lacunae surrounding the optic nerve(s), the spectrum of ocular, papillary, and retinal anomalies varies widely, from nearly normal to dysplasia of the optic nerve and to severe microphthalmos.
BACKGROUND:Aicardi syndrome is a rare X-linked disorder that has been characterized classically by agenesis of the corpus callosum, seizures, and the finding of chorioretinal lacunae. This triad has been augmented more recently by central nervous system and ocular findings. The goal of this study was to determine how frequently other ophthalmologic findings are associated with Aicardi syndrome. METHODS: A single ophthalmologist recorded the ocular and adnexal findings of 40 girls with this disorder at the annual meeting of an Aicardi syndrome family support group. For each subject, the examiner performed facial anthropometrics, portable biomicroscopy, and, where feasible, indirect ophthalmoscopy. RESULTS: The most common findings were chorioretinal lacunae in 66 (88%) of 75 eyes and optic nerve abnormalities in 61 (81%) of 75 eyes. Other less common findings included persistent pupillary membrane in 4 (5%) of 79 eyes and anterior synechiae in 1 of 79 eyes (1%). CONCLUSIONS: Although the ophthalmic hallmark and defining feature of Aicardi syndrome is the cluster of distinctive chorioretinal lacunae surrounding the optic nerve(s), the spectrum of ocular, papillary, and retinal anomalies varies widely, from nearly normal to dysplasia of the optic nerve and to severe microphthalmos.
Authors: Michelle T Cabrera; Bryan J Winn; Travis Porco; Zoe Strominger; A James Barkovich; Creig S Hoyt; Mari Wakahiro; Elliott H Sherr Journal: Pediatr Neurol Date: 2011-09 Impact factor: 3.372
Authors: Ignatia B Van den Veyver; Prisana P Panichkul; Barbra A Antalffy; Yaling Sun; Jill V Hunter; Dawna D Armstrong Journal: Pediatr Neurol Date: 2004-01 Impact factor: 3.372
Authors: Ghayda M Mirzaa; Laura Enyedi; Gretchen Parsons; Sarah Collins; Livija Medne; Carissa Adams; Thomas Ward; Bradley Davitt; Alma Bicknese; Elaine Zackai; Helga Toriello; William B Dobyns; Susan Christian Journal: Am J Med Genet A Date: 2014-08-12 Impact factor: 2.802
Authors: Bibiana K Y Wong; Vernon R Sutton; Richard A Lewis; Ignatia B Van den Veyver Journal: Mol Genet Genomic Med Date: 2017-01-25 Impact factor: 2.183