How to cite this article: Briggs TA, Abdel-Salam GMH, Balicki M, Baxter P, Bertini E, Bishop N, Browne BH, Chitayat D, Chong WK, Eid MM, Halliday W, Hughes I, Klusmann-Koy A, Kurian M, Nischal KK, Rice GI, Stephenson JBP, Surtees R, Talbot JF, Tehrani NN, Tolmie JL, Toomes C, van der Knaap MS, Crow YJ. 2007. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am J Med Genet Part A 146A:182–190.
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)†
Article first published online: 12 DEC 2007
Copyright © 2007 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 2, pages 182–190, 15 January 2008
How to Cite
Briggs, T.A., Abdel-Salam, G.M.H., Balicki, M., Baxter, P., Bertini, E., Bishop, N., Browne, B.H., Chitayat, D., Chong, W.K., Eid, M.M., Halliday, W., Hughes, I., Klusmann-Koy, A., Kurian, M., Nischal, K.K., Rice, G.I., Stephenson, J.B.P., Surtees, R., Talbot, J.F., Tehrani, N.N., Tolmie, J.L., Toomes, C., van der Knaap, M.S. and Crow, Y.J. (2008), Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am. J. Med. Genet., 146A: 182–190. doi: 10.1002/ajmg.a.32080
- Issue published online: 19 DEC 2007
- Article first published online: 12 DEC 2007
- Manuscript Accepted: 16 AUG 2007
- Manuscript Received: 23 MAY 2007
- intracranial calcification;
- intracerebral cysts;
- leukoencephalopathy with calcifications and cysts;
- exudative retinopathy;
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. © 2007 Wiley-Liss, Inc.