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Article

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) or "Coats Plus": when peripheral retinal vasculature signals neurologic disease.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Oct 2017

Mansukhani Sasha, Ho Mai Lan, Gavrilova Ralitza H, Mohney Brian G, Quiram Polly A, Brodsky Michael C

Abstract excerpt

An 8-month-old girl presented with vitreous hemorrhage, peripheral retinal arteriovenous anastomosis, and hypoplasia of the thumb. Magnetic resonance imaging of the brain showed multiple hyperintensities, cysts, and calcifications in the white matter. DNA testing showed a mutation in one allele of the CTC gene, supporting the diagnosis of cerebroretinal microangiopathy with calcifications and cysts (CRMCC), or...

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Identifiers

PMID: 28864049
DOI: 10.1016/j.jaapos.2017.04.015

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