May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Familial Cerebroretinal Microangiopathy With Calcifications and Cysts: An Important Differential Diagnosis of ROP
Author Affiliations & Notes
  • C. Gerth
    Hosp for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Dept. of Ophthalmology,
  • W. Halliday
    Hosp for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Dept. of Pediatric Laboratory Medicine, Division of Pathology,
  • W.-C. Lam
    Hosp for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Dept. of Ophthalmology,
  • D. Chitayat
    Hosp for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Division of Clinical and Metabolic Genetics,
  • N. N. Tehrani
    Hosp for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Dept. of Ophthalmology,
  • Footnotes
    Commercial Relationships  C. Gerth, None; W. Halliday, None; W. Lam, None; D. Chitayat, None; N.N. Tehrani, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 1387. doi:https://doi.org/
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    • Get Citation

      C. Gerth, W. Halliday, W.-C. Lam, D. Chitayat, N. N. Tehrani; Familial Cerebroretinal Microangiopathy With Calcifications and Cysts: An Important Differential Diagnosis of ROP. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1387. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Methods: : We report the clinical course and outcome in siblings with CMCC, born to consanguineous parents, as well as the autopsy findings in one of them.

Results: : The ocular condition of the elder sister was originally diagnosed as ROP with bilateral macular detachments despite multiple laser treatment and vitreo-retinal surgeries. She developed hydrocephalus, intracerebral calcifications and cysts, liver failure and intestinal bleeding, from which she died at 4 years of age. Autopsy demonstrated telangiectatic intracranial vessels.Her younger sister was born at 34 weeks gestation, had ROP screening examination at 38 weeks post menstrual age, which showed extensive areas of non-vascularized retina with presence of a circumferential dilated vessel at the border of zone I and II in right eye. Intravenous fluorescein angiography was performed. Diode laser photocoagulation of the non-vascularized retina was performed at 3 months of age because of failure of progression of retinal vascularization and increasing evidence of ischemia and exudation. Progressive posterior spread of vascular occlusion was observed despite repeated laser photocoagulation in both eyes. Brain MRI at 8 month revealed diffuse abnormalities of the thalami, brainstem and predominantly posterior white matter with significant enhancement but sparing of the optic radiation and cerebellum. Abdominal MRI was normal.

Keywords: retinopathy of prematurity • retinal neovascularization • retinal detachment 
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