Cerebroretinal Microangiopathy with Calcifications and Cysts (CRMCC)

T. A. Briggs, 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. TehraniJ. L. Tolmie, C. Toomes, M. S. Van Der Knaap, Y. J. Crow

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)182-190
Number of pages9
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number2
DOIs
Publication statusPublished - Jan 15 2008

Keywords

  • Coats
  • Exudative retinopathy
  • Intracerebral cysts
  • Intracranial calcification
  • Labrune
  • Leukodystrophy
  • Leukoencephalopathy with calcifications and cysts

ASJC Scopus subject areas

  • Genetics(clinical)

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