Aicardi syndrome: The importance of an ophthalmologist in its diagnosis

Aicardi syndrome is a rare genetic disorder. The salient features of this syndrome include agenesis of corpus callosum, chorioretinal lacunae and infantile spasms. Of these three, chorioretinal lacunae is the most constant feature present. This case highlights the importance of fundus (cid:222) ndings by an ophthalmologist in making the diagnosis of this rare syndrome. We report a case of an 11-year-old boy who presented two days a ft er blunt trauma to the le ft eye with a slingshot. On examination his best corrected visual acuity (BCVA) was 20/20 in the right eye and 20/400 in the le ft eye. Slit-lamp examination of the le ft eye revealed a Vossius ring, traumatic cataract, traumatic posterior capsule tear (PCT). The contour of the posterior capsule bulge corresponded to the edges of the PCT. Rotating Scheimp (cid:223) ug imaging (Pentacam 70700:Oculus, Wetzlar Germany) con (cid:222) rmed the traumatic cataract in the region of the PCT visualized as increased lens density at the cortex-vitreous interface. The extent of the PCT in the greatest and least dimensions was documented before and after intraocular lens (IOL) implantation. Intra-operatively, the PCT was evident and phaco-emulsification with an IOL implant was performed. Postoperatively, his BCVA improved to 20/20 in the le ft eye with a well-centered in-the-bag IOL as found on slit-lamp and Scheimp (cid:223) ug images. Posterior capsule tear (PCT) and cataract formation may occur following non-penetrating ocular injury. [1] Management of such cases depends to a great extent on the accurate assessment of the tear. We report a case of isolated pediatric posterior capsule tear following closed globe injury and highlight the use of Scheimp (cid:223) ug imaging, to visualize and quantify the size of PCT.

in all the cases. This kind of painless course is probably due to the anesthetic properties of Calotropis latex. [3] Seventeen out of 24 eyes showed signiÞ cant low endothelial cell count aft er three months follow-up compared to the fellow normal eye. These Þ ndings suggest that unlike other chemical burns, Calotropis latex is paradoxically relatively non-toxic to the corneal epithelium, but highly toxic to the corneal endothelium. That is why there was corneal edema with varying degree of Descemet's folds. The management in most cases is as simple as treating a mild chemical burn.
In conclusion, the latex of Calotropis procera causes immediate severe corneal damage with painless sudden dimness of vision. It may also cause reduction in endothelial cell count over a period of time. Every year during the months of February and April, a few people suff er from this kind of chemical injury during the festive season. Simple health education like washing of hands, avoiding contact or rubbing of eyes while plucking of Calotropis ß ower is important to prevent this kind of injury.
Aicardi syndrome is a rare congenital disorder that was Þ rst described by a French neurologist, Jean Aicardi in 1965. [1] It is characterized by a classic triad of agenesis or hypogenesis of the corpus callosum, infantile spasms and chorioretinal lacunae. It is a X-linked disorder and is seen almost exclusively in females. We report a case of this rare disorder.

Case Report
A three-month-old female child was referred to our hospital for evaluation of apparent blindness. There was history of frequent episodes of ß exor spasms with twitching of both eyes since one and a half months of age. Each episode recurred nearly Þ ve to six times per day associated with drooling of saliva. According to the parents, the child never turned towards light or sound. She was a second child born to a non-consanguineous marriage. It was a full-term normal delivery. There was no history of jaundice, fever or convulsion in the immediate neonatal period.
On examination, there was global developmental delay. The head circumference was in 10 th percentile. On ophthalmic examination the child was neither responding to nor following bright light. Both the pupils were very sluggish in reaction. Anterior segments of both eyes were normal. The vitreous was clear and normal in both eyes. Fundus examination revealed bilateral optic nerve colobomas with variable-sized discrete dome-shaped loci of pale areas with sharp borders (chorioretinal lacunae) just nasal to the optic discs [ Fig. 1a, 1b]. The fovea was spared in both the eyes.
As the child had seizures, electroencephalography (EEG) was done by the neurologist. EEG showed burst of spike, polyspike, sharp and slow-wave complexes with suppression in between, predominantly over the right hemisphere. Bilateral synchronous and symmetrical discharges were also present along with slow waves of high amplitudes that were seen more on the right hemisphere. Thus, it showed burst suppression and hypsarrhythmia patt ern. Computed tomography (CT) scan of the child revealed hypogenesis of the corpus callosum with small inter-hemispheric cyst [ Fig. 2].
She was on anti-epileptic medications and subcutaneous injections of adrenocorticotropic hormone (ACTH) and was having good seizure control.

Discussion
Aicardi syndrome is a rare X-linked dominant genetic disorder. The syndrome is almost exclusively seen in females with early embryonic lethality in hemizygous males. [2] The diagnosis of this disorder is mainly based upon the classic triad of infantile spasms, chorioretinal lacunae and corpus callosum agenesis. Infantile spasms typically start in early childhood. Dissociated burst suppression or burst suppression pattern appearing asymmetrically in either cerebral hemisphere is a characteristic EEG Þ nding in this syndrome, [3] which was seen in our case. Developmental delay is generally profound involving both motor and language skills. Chorioretinal lacunae are well-deÞ ned, multifocal pale areas with minimally pigmented borders, and they are usually clustered around the optic disc. They are peculiar punched out areas of choroidal and retinal pigment epithelium (RPE) atrophy. Other ocular abnormalities reported are optic nerve colobomas, which was seen in our case, optic nerve hypoplasia, optic disc pigmentation, microphthalmos, retrobulbar cyst, pseudoglioma, retinal detachment, macular scars, cataract, pupillary membrane remnants, iris synechiae and iris coloboma. [4] Good visual function is seen if fovea is spared of the chorioretinal lacunae, as seen in our case. Costovertebral malformations such as hemivertebrae, fusion of vertebrae, kyphoscoliosis, absent or malformed ribs, and occasionally cleft lip and palate may also be associated with Aicardi syndrome. [2] However, none of these Þ ndings were detected in our case. Most of the Aicardi syndrome cases die at an early age due to aspiration pneumonitis. But some do live up to the adolescent years and even into their twenties. [5] ACTH, prednisolone, valproic acid and clonazepam have been used with variable success. [6] Of late a larger spectrum of the disease has been recognized. In 1998, Aicardi [7] reported that corpus callosum agenesis is   not the hallmark of the disease and is not even necessary for diagnosis if other cerebral pathologies, such as cysts, are present. Fundus examination has gained increasing importance when Aicardi [6] reported in 2005 that no feature except chorioretinal lacunae is constant. Hyogenesis of the corpus callosum and infantile spasm can be seen in a number of other disorders but in diagnosing Aicardi syndrome the ophthalmologist can play a pivotal role in looking for chorioretinal lacunae and clinching the diagnosis, as in our case.
Thus, in conclusion, Aicardi syndrome should be kept in mind while investigating a female child with recurrent seizures in early childhood, and fundus examination by an ophthalmologist can be of immense help in the diagnosis of this rare genetic disorder.