Presentation Before birth A child who has inherited this disorder will grow slower than normal in the uterus before birth and typically will be born before term. The pregnancy can be complicated by gestational hypertension and pre-eclampsia. After birth The majority of affected children present with symptoms and signs relating to the eyes such as leukokoria, redness, irritation and impaired vision, which result from retinal detachment and glaucoma. A minority present with seizures or spasticity. The time of onset of symptoms varies from infancy to adolescence. Because a child born before term will need to undergo screening for retinopathy of prematurity, some will have abnormalities in their retinal blood vessels detected when they have no symptoms yet. Brain Neurologic symptoms and signs vary depending on the site of the brain abnormalities. Common symptoms are partial epilepsy, asymmetric spasticity, ataxia and cognitive impairment. The latter affects visuospatial and visuoconstructive skills first. The intracranial pressure can be elevated if<unk>  develop in the brain. Migraine-like headaches can occur. Eyes Smaller blood vessels of the retina are abnormally developed and appear tortuous and dilated to a variable extent, typically in one sector and mainly in the peripheral and temporal portions of the retina. This is known as telangiectasia. The vessel walls are weak and leak blood plasma and lipid within and underneath the retina. This leakage can lead to exudative retinal detachment, also known as exudative retinopathy in this context. The detachment typically has a yellowish tint because the fluid under the retina contains lipid. These findings mimic Coats disease. Characteristically, the abnormal vessels are localized and the retinal blood vessels peripheral to the abnormal ones seemingly have failed to develop and are thus not seen. In some eyes, retinal vessels form small nodules on the surface of the retina, known as angiomas. These can bleed and be attached to the vitreous humour. The attachment can cause traction retinal detachment. Gastrointestinal tract Recurrent intestinal bleeding is fairly common. It originates from telangiectatic small blood vessels in the intestinal mucosa. Additional findings in some individuals are portal hypertension and liver failure. Blood Many affected children develop anemia, which may be macrocytic in type. Some also develop thrombocytopenia. Bone marrow examinations may show megaloblasts and increased erythropoiesis or bone marrow suppression. Bones The long bones show osteopenia and pathologic fractures can occur. Skin, nails and hair Some children have sparse and greying hair, café au lait spots and nail dystrophy. General Most patients continue to grow poorly after birth.
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