The ocular phenotype has not been well defined in this condition since few families have been reported. Microphthalmia is present in some patients. The corneas may be small and there is often some conjunctival growth over the limbus.
The retinal features consist of lacunar depigmentation of the RPE and in some cases resemble the lesions of congenital toxoplasmosis. Eighty to 90 per cent of patients have areas of atrophic and dysplastic-appearing lesions of the retina and choroid with vascular attenuation. The edges of lacunae may have patchy hyperpigmentation. These lesions are usually static but may show mild progression. Visual acuity is generally stable or only mildly progressive. However, other patients have a severe reduction in acuity. ERG responses are reduced.