Poster 69

by in  Poster Session 1

Cerebroretinal Microangiopathy with Calcifications and Cysts (CRMCC) or “Coats Plus”: When Peripheral Retinal Vasculature Signals Neurologic Disease

Michael C. Brodsky; Sasha Mansukhani; Mai Lan Ho; Ralitza Gavrilova; Brian Mohney; Polly Quiram
Mayo Clinic
Rochester Minnesota

 

Introduction: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a rare cerebroretinal disorder with neurologic and systemic manifestations.

Methods: Retrospective case report.

Results: An 8-month-old girl presented with exotropia, on a background of mildly delayed milestones and right thumb hypoplasia. On examination, vitreous hemorrhage with a ridge of peripheral neovascularization adjacent to an avascular zone was present in the right eye and telangiectasia was present in the left eye, and confirmed by fluorescein angiography. Magnetic resonance imaging of the brain showed multifocal T2 hyperintensities, with cystic changes and calcifications. A gene panel test was ordered to confirm the diagnosis of CRMCC or Coats plus disease. A heterozygous pathogenic mutation c.1994T>G p.Val665Gly in the conserved telomere maintenance component 1 (CTC1) gene was found.

Discussion: CRMCC is a rare autosomal recessive cause of pediatric retinal disease that occurs due to mutations in the CTC1 gene on chromosome 17p13.1. The disease manifestations are thought to result from a small vessel vasculopathy with retinal features similar to Coats disease in the form of telangectasias, subretinal exudates, and vitreous hemorrhage. The eponym ‘Coats plus’ stems from additional small-vessel changes in the brain. Multisystem features are present, including pre and post natal growth restriction, sparse hypopigmented hair, gastrointestinal bleeding and various skeletal abnormalities. Early diagnosis of CRMCC is important for systemic management and genetic counseling.

Conclusion: Neuroimaging should be performed when peripheral retinal vasculature abnormalities are associated with neurological or syndromic features, however mild or seemingly unrelated.

References: Linnankivi T, Valanne L, Paetau A, et al. Cerebroretinal microangiopathy with calcifications and cysts. Neurology 2006; 67:1437-43.

Toiviainen-Salo S, Linnankivi T, Saarinen A, Mayranpaa MK, Karikoski R, M€akitie O. Cerebroretinal microangiopathy with calcifications and cysts: characterization of the skeletal phenotype. Am J Med Genet A 2011;155A:1322-8.

Bisserbe A,TertianG, Buffet C, et al. Cerebro-retinalmicroangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene. Rev Nuerol (Paris) 2015;171:445-9.

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