Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

T.A. Briggs, G. 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 & 4 others J.L. Tolmie, C. Toomes, M.S. van der Knaap, Y.J. Crow

    Research output: Contribution to JournalArticleAcademicpeer-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. © 2007 Wiley-Liss, Inc.
    Original languageEnglish
    Pages (from-to)182-190
    JournalAmerican Journal of Medical Genetics Part A
    Volume146A
    Issue number2
    DOIs
    Publication statusPublished - 2008

    Fingerprint

    Leukoencephalopathies
    Cysts
    Telangiectasis
    Exudates and Transudates
    Phenotype
    Brain
    Cerebroretinal Microangiopathy with Calcifications and Cysts
    Leukoencephalopathy Brain Calcifications and Cysts

    Cite this

    Briggs, T. A., Abdel-Salam, G., Balicki, M., Baxter, P., Bertini, E., Bishop, N., ... Crow, Y. J. (2008). Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). American Journal of Medical Genetics Part A, 146A(2), 182-190. https://doi.org/10.1002/ajmg.a.32080
    Briggs, T.A. ; Abdel-Salam, G. ; 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. ; Crow, Y.J. / Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). In: American Journal of Medical Genetics Part A. 2008 ; Vol. 146A, No. 2. pp. 182-190.
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    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. {\circledC} 2007 Wiley-Liss, Inc.",
    author = "T.A. Briggs and G. Abdel-Salam and M. Balicki and P. Baxter and E. Bertini and N. Bishop and B.H. Browne and D. Chitayat and W.K. Chong and M.M. Eid and W. Halliday and I. Hughes and A. Klusmann-Koy and M. Kurian and K.K. Nischal and G.I. Rice and J.B.P. Stephenson and R. Surtees and J.F. Talbot and N.N. Tehrani and J.L. Tolmie and C. Toomes and {van der Knaap}, M.S. and Y.J. Crow",
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    Briggs, TA, Abdel-Salam, G, 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 2008, 'Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)' American Journal of Medical Genetics Part A, vol. 146A, no. 2, pp. 182-190. https://doi.org/10.1002/ajmg.a.32080

    Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). / Briggs, T.A.; Abdel-Salam, G.; 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.; Crow, Y.J.

    In: American Journal of Medical Genetics Part A, Vol. 146A, No. 2, 2008, p. 182-190.

    Research output: Contribution to JournalArticleAcademicpeer-review

    TY - JOUR

    T1 - Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

    AU - Briggs, T.A.

    AU - Abdel-Salam, G.

    AU - Balicki, M.

    AU - Baxter, P.

    AU - Bertini, E.

    AU - Bishop, N.

    AU - Browne, B.H.

    AU - Chitayat, D.

    AU - Chong, W.K.

    AU - Eid, M.M.

    AU - Halliday, W.

    AU - Hughes, I.

    AU - Klusmann-Koy, A.

    AU - Kurian, M.

    AU - Nischal, K.K.

    AU - Rice, G.I.

    AU - Stephenson, J.B.P.

    AU - Surtees, R.

    AU - Talbot, J.F.

    AU - Tehrani, N.N.

    AU - Tolmie, J.L.

    AU - Toomes, C.

    AU - van der Knaap, M.S.

    AU - Crow, Y.J.

    PY - 2008

    Y1 - 2008

    N2 - 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.

    AB - 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.

    U2 - 10.1002/ajmg.a.32080

    DO - 10.1002/ajmg.a.32080

    M3 - Article

    VL - 146A

    SP - 182

    EP - 190

    JO - American Journal of Medical Genetics Part A

    JF - American Journal of Medical Genetics Part A

    SN - 1552-4825

    IS - 2

    ER -

    Briggs TA, Abdel-Salam G, Balicki M, Baxter P, Bertini E, Bishop N et al. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). American Journal of Medical Genetics Part A. 2008;146A(2):182-190. https://doi.org/10.1002/ajmg.a.32080