Removal or enucleation of the eye is a last resort option if the eye already has become blind and painful.Repeated blood transfusions may be needed to control anemia, and thrombocytopenia can be managed with splenectomy. Prognosis
The neurological symptoms are progressive and can lead to severe spasticity, bulbar symptoms and dysarthria within one to two decades. The life span is shorter than normal. Death occurs between 2 and 30 years of age, depending on the severity of the syndrome. The immediate cause of death is pneumonia, fulminant intestinal bleeding or multiple organ dysfunction.If not treated, the retinal detachment can lead to ischemia and growth of new blood vessels over the iris and anterior chamber angle. This in turn can cause secondary glaucoma, cataract and, ultimately, blindness of the eye. Epidemiology
This syndrome is usually sporadic although families with two or more affected siblings of both sexes are known. History
A child who was eventually diagnosed with cerebroretinal microangiopathy with calcifications and cysts was first described in the literature in 1987. The disorder was suspected of being allelic with either the Revesz syndrome or leukoencephalopathy with calcifications and cysts.
However, Revesz syndrome, a severe variant of dyskeratosis congenita, was later shown to result from heterozygous dominant mutations in the TINF2 gene, which encodes TRF1-interacting nuclear factor 2, a major component of the telomere protecting shelterin complex, and individuals with the leukoencephalopathy with calcifications and cysts phenotype have not had mutations in the CTC1 gene.Before the causative mutation was identified, mutations were sought from the Wnt signalling pathway because its components were known to be responsible for Norrie disease and familial exudative vitreoretinopathy, which share features of the eye phenotype but not the brain or systemic abnormalities.Coats disease is named after George Coats. References


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