X-linked dominant

Early onset cataracts, often sectorial, are the major ocular feature of this syndrome.  Micropthalmia and microcornea have been observed.  There may be local vitreoretinal abnormalities leading to localized detachments and retinoschisis.

This is primarily a disorder of skin, teeth, hair, and the central nervous system but 35% of patients have important ocular features.  The iris is variably atrophic and has pigmentary anomalies often with posterior synechiae.  Nystagmus, strabismus, and limited vision are often present.  The majority (up to 90%) of individuals have significant retinal disease.  The retinal vascular pattern is anomalous with tortuosity in some areas and absence of vessels in others.  Preretinal fibrosis and retinal detachments may suggest the presence of a retinoblastoma.  Cataracts are common in patients who have a retinal detachment and some patients have microphthalmia. The retinal pigment epithelium is often abnormal with various-sized patches of sharply demarcated depigmentation.  Cases with uveitis, papillitis and chorioretinitis have been observed and it has been suggested that the observed retinal and choroidal changes result from prior inflammatory disease, perhaps even occurring in utero. There is a great deal of asymmetry in the clinical findings in the two eyes.

Corneal opacification is severe in males and has been described as resembling ground glass, or having a milky white appearance throughout the entire cornea.  Corneal clouding may be seen in infants but progresses with age in most cases.  In a 7 generation Austrian family, nine males had severe corneal opacification, seven with band keratopathy and 2 with the typical ground glass appearance.  Vision may be 20/20 even in adults but the majority have acuities in the range of 20/30 to 20/60 even into the 7^th decade.  A few have vision of 20/100 to 20/400 even as young adults and one 19 year old was reported with nystagmus.  The corneas of twenty-two females and four males were said to have only a 'moon crater-like' appearance resulting from focal discontinuities in the endothelial layer.  Tissue studies of a keratoplasty button from a 60 year old male revealed endothelial degeneration and thickening of the Descemet membrane.  There may also be irregular thinning of the epithelial and Bowman layers.

Of the anterior epithelial dystrophies, this one is unusual in the absence of spontaneous corneal erosions.  It is also the only one of this group to be an X-linked disorder.  Onset occurs in childhood and by adulthood vision can be significantly reduced.  Most individuals, however, retain vision in the range of 20/25 to 20/40 into the 7th and 8th decades.  Gray, feathery opacities in the anterior cornea often appear in a band-like or whorled pattern.  Vacuolization of the epithelial cells is responsible for this appearance but in Lisch dystrophy, these microcysts are empty compared to Reis-Bucklers, epithelial basement membrane, and Thiel-Behnke anterior dystrophies in which degenerative debris fills them.  In spite of the X-linked inheritance pattern, both males and carrier females may have similar corneal opacities since the mutation is dominant.

A variety of chorioretinal lesions have been described in Aicardi syndrome including lacunae ('holes') in 88%, and choroid plexus papillomas which are considered specific and characteristic.  These tend to be more common in the posterior pole. They are stable and do not enlarge.  They can usually be distinguished from post-infection scars by the absence of pigmentation.  A bull's eye maculopathy may be present.  Optic nerve colobomas (in 42%) and hypoplasia have been reported.   At least 61% of eyes have some optic nerve abnormalities.  Presumed microphthalmia has been noted in 25% of patients. A minority of patients have a persistent pupillary membrane.  Sparse lateral eyebrows have also been reported with .

There is evidence that the primary molecular defect involves Bruch's membrane resulting in damage to the RPE.

Congenital glaucoma has been diagnosed in several patients.