When was aicardi syndrome discovered

All seven patients were female. Mean age at the time of data collection was In one patient, diagnosis was not made until the age of All patients were assessed by an Ophthalmologist, but only four went on to have an examination under anaesthetic EUA. The majority of these seven patients presented with seizure activity with only one initially presenting to ophthalmology with ocular findings of microphthalmia and heterochromia noted by the parents.

Four patients were officially assessed for developmental delay. Two were found to have severe delay and two were found to have moderate developmental delay. Of the three patients who were not officially assessed, one died at the age of 10 weeks but was felt to be significantly delayed.

The other two patients were documented to have significant learning disabilities. All seven patients had agenesis of the corpus callosum on their MRI brain scans. In addition, five patients also showed some degree of cortical dysgenesis. No apparent optic nerve or chiasm was evident in one patient. All seven girls were examined by a paediatric ophthalmologist. One girl, with a delayed diagnosis, was assessed at age All patients had chorioretinal lacunae present in both eyes although the findings were asymmetrical.

Four patients who had microphthalmus also had iris abnormalities; the two patients with bilateral microphthalmus had partial aniridia and the two patients with unilateral microphthalmus had iris coloboma in the same eye. Of the seven patients, two were also found to have a persistent tunica vasculosa; one bilateral and one unilateral. Only one patient developed raised intra-ocular pressure. One patient had absence of the optic nerves and chiasm confirmed by MRI.

Overall seven eyes had excavated discs and two had hypoplastic discs. All the patients with abnormal anterior segment findings were also found to have optic disc abnormalities. Two patients, neither of whom were born prematurely, had unilateral peripheral retinal changes. Both showed fibrovascular proliferation with a thickened white ridge and avascular zone beyond Figures 1 and 2.

One patient had already developed a detached retina at the time of initial presentation and, following discussions with the vitreoretinal team, the parents declined any surgical intervention. Patient 5. Patient 6. Four patients underwent electrophysiology; only one of which was bilaterally normal. The other two had unilateral gross attenuation over one hemisphere on VEP.

NPL was documented in five of the 14 eyes with two of these eyes being phthisical. In the remaining eyes, visual potential was limited by structural optic disc abnormalities, brain abnormalities or both. A study in of cases of Aicardi syndrome found a prevalence of greater than cases for the United States and several thousand worldwide.

Our review of patients with Aicardi syndrome in Northern Ireland has revealed some novel clinical findings. It has long been recognised that, along with the pathognomonic finding of chorioretinal lacunae, there are many other ophthalmic findings that are felt to be typical. Microphthalmus can restrict full fundal examination and is felt to be associated with a high rate of posterior segment disease.

To our knowledge, patients described in recent study cohorts have not had EUA examinations to reliably determine associated posterior segment findings in microphthalmic eyes. Four of our patients with microphthalmic eyes had associated iris abnormalities. Two had inferior iris colobomas, which have previously been described in the literature.

Although a case of retinopathy of prematurity and a case of choroidal neovascularisation have both been reported in patients with Aicardi syndrome, we are not aware of any reports of eyes with peripheral retinal non-perfusion and anomalous retinal vasculature having been previously described in full-term infants with Aicardi syndrome Figures 1 and 2. Both eyes with this finding had visual acuity of no perception of light NPL , both developed chronic retinal detachment and one eye ultimately became phthisical.

Both eyes had associated microphthalmus, iris colobomas or excavated discs, and the peripheral retinal changes were only discovered following EUA. Shapiro et al 13 have recently reported on the association of congenital optic nerve anomalies with peripheral retinal non-perfusion and the secondary complication of fibrovascular proliferation and tractional retinal detachment. Interestingly, both of our Aicardi patients who had peripheral retinal non-perfusion also had congenital excavated optic discs.

Early examination under anaesthesia to allow adequate examination of the peripheral retina in Aicardi patients with optic disc anomalies would facilitate earlier intervention with laser therapy or possibly anti-VEGF therapy if peripheral non-perfusion was identified, which might ultimately prevent retinal detachment and blindness.

Shapiro et al 13 reported that the retina remained attached in all eyes in their cohort that had congenital disc anomalies and severe retinal non-perfusion when they had been treated with laser. The developmental 14 The findings in Aicardi syndrome patients also suggest developmental origins in the neuroectoderm, which is responsible for the pigmented epithelia of retina and iris, the sensory retina, optic nerve, iris sphincter and dilator muscles, and part of the vitreous.

The developmental association of these ocular structures would suggest that patients with more severe anterior segment findings may be at higher risk of posterior findings and would therefore be most likely to benefit from examination under anaesthesia. Northern Ireland has only one Regional Genetic Centre, which allowed identification of all affected patients. However, given the rarity of Aicardi syndrome and the small population of Northern Ireland 1. There were some limitations in data collection due to historical data loss when patients transferred from paediatric care to adult services.

This study had a high rate of EUAs, which provided more detail on posterior segment findings then previous studies. It confirms previous suspicions that microphthalmus is associated with worse optic disc and posterior segment findings. We feel the association of microphthalmus and severe optic disc abnormalities with peripheral retinal dysplasia warrants early EUA to enable early treatment and hopefully result in better prognosis in these cases.

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Abnormal posturing refers to rigid body movements and chronic abnormal positions of the body. Learn more here. Health Conditions Discover Plan Connect. Aicardi Syndrome. People with Aicardi syndrome often have the following: a partial or complete absence of the corpus callosum infantile spasms or seizures that begin during infancy chorioretinal lacunae, or lesions in the light-sensitive layer of tissue at the back of the eye Not all people with Aicardi syndrome have these features.

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Specifically, the revised criteria were expanded to include two classic features plus at least two other major or supporting features. Retinal lacunae and seizures are present in all, or almost all, of the cases. Major and supporting features include:. Involvement of other organ systems besides the brain and eyes are also common but the signs and symptoms are not part of the diagnostic criteria and are not present in all cases.

These include:.