Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome

Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome (also known as cerebroretinal microangiopathy with calcifications and cysts, or CRMCC, and sometimes referred to as Coats plus syndrome in related phenotypes) is an extremely rare multisystem disorder characterized by a distinctive triad of retinal vascular disease, small vessel hyalinosis affecting the gastrointestinal tract, and diffuse calcifications within the brain. The condition primarily affects the central nervous system, the eyes, and the digestive system. Patients may develop progressive visual loss due to retinal ischemia resembling Coats disease (retinal telangiectasia and exudative retinal detachment), gastrointestinal bleeding or other digestive complications related to hyaline degeneration of small blood vessels in the intestinal wall, and neurological symptoms associated with intracerebral calcifications which may include seizures, cognitive decline, or other neurological deficits. Additional features reported in some patients include leukoencephalopathy, intracranial cysts, bone abnormalities, and growth retardation. The condition has been associated in some cases with mutations in the CTC1 gene, which encodes a component of the CST telomere maintenance complex, linking it to disorders of telomere biology. The disease typically manifests in childhood or young adulthood and follows a progressive course. There is currently no curative treatment; management is supportive and symptom-directed, including ophthalmologic interventions such as laser photocoagulation for retinal disease, management of gastrointestinal complications, and neurological monitoring. Given its extreme rarity, clinical experience is limited and multidisciplinary care is essential.

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