Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

Am J Med Genet A. 2008 Jan 15;146A(2):182-90. doi: 10.1002/ajmg.a.32080.

T A Briggs ¹, G M H Abdel-Salam, M Balicki, P Baxter, E Bertini, N Bishop, B H Browne, D Chitayat, W K Chong, M M Eid, W Halliday, I Hughes, A Klusmann-Koy, M Kurian, K K Nischal, G I Rice, J B P Stephenson, R Surtees, J F Talbot, N N Tehrani, J L Tolmie, C Toomes, M S van der Knaap, Y J Crow

Affiliations

Affiliation

1 Yorkshire Regional Genetics Service, St James's University Hospital, Leeds, UK.

PMID: 18076099 DOI: 10.1002/ajmg.a.32080

Abstract

Extensive intracranial calcifications and leukoencephalopathy are seen in both Coats plus and leukoencephalopathy with calcifications and cysts (LCC; Labrune syndrome). Coats plus syndrome is additionally characterized by the presence of bilateral retinal telangiectasia and exudates while LCC shows the progressive formation of parenchymal brain cysts. Despite these apparently distinguishing features, recent evidence suggests that Coats plus and LCC represent the same clinical entity with a common primary pathogenesis involving a small vessel obliterative microangiopathy. Here, we describe eight previously unreported cases, and present an update on one of the original Coats plus patients to highlight the emerging core clinical features of the "cerebroretinal microangiopathy with calcification and cysts" (CRMCC) phenotype.

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