Cerebroretinal Microangiopathy with Calcifications and Cysts

10/01/2022 - "Efficacy of Systemic Bevacizumab on Coats Plus Syndrome."

01/01/2022 - "Coats Plus syndrome can have a variable phenotypic presentation, including retinal vascular findings. "
08/01/2017 - "Coats plus syndrome is also characterized by the same neuroradiological findings together with defects in retinal vascular development. "
11/01/2023 - "Purpose: To present a case of retinal vascular disease characterized primarily by capillary nonperfusion in an adult with Coats plus syndrome (CPS). "
01/01/2020 - "Coats plus syndrome (CP) is a rare condition characterized by bilateral exudative retinal telangiectasias with associated systemic disorders primarily affecting the brain, bone and gastrointestinal tract due to a mutation in the CTC1 gene. "
05/01/2015 - "Cerebro-retinal microangiopathy with calcifications and cysts (CRMCC) or Coats plus syndrome is a pleiotropic disorder affecting the eyes, brain, bone and gastrointestinal tract. "

01/01/2020 - "The role of the CTC1-STN1-TEN1 (CST) complex in Coats plus syndrome (CP), as well as other telomeropathy-phenotypes and disorders of genome instability is well documented. "
01/01/2018 - "Coats plus syndrome is a complex genetic disorder that can be caused by mutations in genes encoding the CTC1-STN1-TEN1 (CST) complex, a conserved single-stranded DNA binding protein complex. "

01/01/2014 - "In particular, we review the clinical spectrum and the molecular pathogenesis of certain adult-onset leukoencephalopathies, including cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), cerebroretinal microangiopathy with calcifications and cysts (CRMCC), hereditary diffuse leukoencephalopathy with spheroids (HDLS), fragile X-associated tremor/ataxia syndrome (FXTAS), vanishing white matter disease (VWM), autosomal dominant leukodystrophy due to lamin B1 duplication (ADLD), and vascular leukoencephalopathy mapping to chromosome 20q13. "

01/01/2022 - "Finally, Coats plus syndrome disease mutations previously characterized to disrupt formation of the CST-Polα/primase complex map to protein-protein interfaces observed in the recruitment state. "

12/01/2022 - "Coats plus syndrome with new observation of drusenoid retinal pigment epithelial detachments in a teenager."

01/01/2022 - "Finally, Coats plus syndrome disease mutations previously characterized to disrupt formation of the CST-Polα/primase complex map to protein-protein interfaces observed in the recruitment state. "

01/01/2021 - "Several non-synonymous single-nucleotide polymorphisms (nsSNPs) in CTC1 have been reported to cause Coats plus syndrome and Dyskeratosis congenital diseases. "

01/01/2018 - "Coats plus syndrome is a complex genetic disorder that can be caused by mutations in genes encoding the CTC1-STN1-TEN1 (CST) complex, a conserved single-stranded DNA binding protein complex. "

10/01/2017 - "DNA testing showed a mutation in one allele of the CTC gene, supporting the diagnosis of cerebroretinal microangiopathy with calcifications and cysts (CRMCC), or Coats plus disease, despite which designation this condition can present without subretinal exudate. "