Literature DB >> 22108368

Cerebroretinal microangiopathy with occlusive telangiectasia and multisystemic manifestations.

Netan Choudhry1, Anton Orlin, Larissa Bilaniuk, Albert M Maguire.   

Abstract

Cerebroretinal microangiopathy with calcification and cysts is a multisystem autosomal-recessive disorder in which there is an obliterative angiopathy of small vessels, primarily in the brain, retina, and gastrointestinal tract. We present the case of a 14-year-old boy with cerebroretinal microangiopathy with calcification and cysts illustrating the classic occlusive retinal telangiectasias. His condition was diagnosed using multiple imaging modalities, including upper gastrointestinal endoscopy of the upper gastrointestinal tract, magnetic resonance imaging, optical coherence tomography, and fluorescein angiography.
Copyright © 2011 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

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Year:  2011        PMID: 22108368     DOI: 10.1016/j.jaapos.2011.05.014

Source DB:  PubMed          Journal:  J AAPOS        ISSN: 1091-8531            Impact factor:   1.220


  2 in total

1.  A rare case of occlusive juxtafoveolar retinal telangiectasias associated with lesions of the central nervous system: A cerebroretinal vasculopathy like phenotype without mutations in the TREX1 gene.

Authors:  Mark P Seraly; Karim H Badawi; Sumeet K Gupta; Nabil M Jabbour; Brian Ellis; Monique Leys
Journal:  Am J Ophthalmol Case Rep       Date:  2020-10-27

2.  Macular telangiectasia with bilateral obliterated capillaries: a case report.

Authors:  Melika Samadi; Afsaneh Azarkish; Hamid Riazi-Esfahani; Alireza Mahmoudi; Nazanin Ebrahimiadib
Journal:  J Med Case Rep       Date:  2022-10-13
  2 in total

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