Clinical The retinal changes are easily identified by ophthalmoscopy, which is performed under general anesthesia if the child is very young. The abnormal vessels are even better seen with fluorescein angiography. In advanced disease, glaucoma is diagnosed by measuring intraocular pressure and cataract by using slit lamp biomicroscopy. Imaging findings The most consistent finding are widespread<unk> , which involve the white matter of the cerebrum mostly adjacent to the junction with the grey matter, the thalami, the basal ganglia and the brainstem. The white matter of the cerebellum and the dentate nuclei are less often involved. However, the brain may appear normal in the neonatal period. The<unk>  are visible both with computed tomography and with magnetic resonance imaging. Magnetic resonance imaging shows additionally diffuse or patchy white matter changes, especially in the periventricular region, the thalami and the internal capsule. Cerebellar and brainstem lesions are less common. Imaging also uncovers parenchymal<unk>  situated mainly in the thalamic region and more rarely in the brainstem, the parietal lobe and the frontal lobe. The long bones may be osteopenic and various skeletal changes are found in several patients, such as metaphyseal sclerosis and mild flaring, which is most pronounced in the femur and tibia. Laboratory findings The cerebrospinal fluid and blood tests are typically normal, except for anemia and thrombocytopenia in some children.
Cerebroretinal microangiopathy with calcifications and cysts
Intraretinal microvascular abnormalities
Punctate inner choroiditis
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chronic relapsing inflammatory optic neuropathy
Diffuse unilateral subacute neuroretinitis
Progressive outer retinal necrosis
Giant retinal ganglion cells