Congenital Cataract And Anterior Persistent Fetal Vasculature As Rare Manifestations Of Aicardi Syndrome.

Aicardi Syndrome (AS) is a very infrequent X-linked disorder characterized by corpus callosum agenesis, seizures, and atrophic chorioretinal lacunae, with a global prevalence of 4000 cases. Congenital cataract (CC) and anterior persistent fetal vasculature (PFV) are not frequent findings in AS and the purpose of this presentation is to describe a case in which these unusual ophthalmological manifestations were found.

Ophthalmology Department, Hospital Sant Joan de Deu, Barcelona (Cataluña), Spain.

We present a 4-month-old patient who was taken to the hospital because he had been suffering seizures (upper and lower limb flexion episodes). He underwent cranial magnetic resonance imaging, that reveled temporal arachnoid cyst, frontal cortex misdevelopment and dysgenesis of the corpus callosum, as well as a suggesting image of PFV in her right eye. Also, an electroencephalography was performed that reported episodes compatible with tonic epileptic spasms. The pediatricians asked for examination at ophthalmology department because they noticed that the baby had intermittent exotropia and alteration of the red reflex in her right eye. Ophthalmic examination reveled a big central nuclear and posterior cortical cataract affecting the visual axis. The patient underwent surgery to remove the cataract, and during the surgery the presence of anterior PFV was confirmed since a big hyaloid artery was observed. After cataract removal, a fundoscopy could be performed in her right eye which showed multiple peripapillary and peripheral chorioretinal areas of atrophy (not involving fovea).  The typical triad of agenesis of the corpus callosum, seizures, and chorioretinal lacunae confirmed the diagnosis of Aicardi syndrome.

Although the ophthalmic pathognomonic findings in the AS are the chorioretinal lacunae, many other ophthalmic manifestations have been described. CC and PFV are not reported as frequent findings in AS. Also, no case of AS in which the patient needed cataract surgery due to an important CC affecting visual axis, has been reported in literature. The visual outcome of patients with Aicardi syndrome is generally poor but most children have some useful visual behavior. We consider that is important to perform an exhaustive ophthalmic examination in patients with AS in order to detect CC and PVF and perform cataract surgery on time to prevent amblyopia when there is a significant compromise of the visual axis due to the cataract.