Cerebroretinal Microangiopathy with Calcification and Cysts in a Young Man-A Recently Described Syndrome (Audio)

Floaters OSA 24-year old male with a 2-month history of floaters affecting the left eye. Previous history significant for bilateral retinal vasculitis, migraine and complications of intrauterine growth retardation.VA: 6/4 OD, 6/6 OS; Slow voluntary saccades; Bilateral hypertonia; Ischemic retinoapthy; Left vitreous hazeCT; MRICalcification of basal ganglion, pons and temporal lobe.N/A1. Linnankivi T, Valanne L, Paetau A, et al. Cerebroretinal microangiopathy with calcifications and cysts, Neurology, 67:1437-1443, 2006. 2. Briggs TA, Abdel-Salam GMH, Balicki M, et al. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), American Journal of Medical Genetics Part A, 146A:182-190, 2008. 3. Goutières F, Dollfus H, Becquet F and Dufier J-L. Extensive Brain Calcification in Two Children with Bilateral Coats' Disease, Neuropediatrics, 19-21, 1999. 4. Revesz T, Fletcher S, al-Gazali LI and DeBuse P. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?, J Med Genet, 29:673-5, 1992. 5. Sazgar M, Leonard NJ, Renaud DL, et al. Intracranial calcification, retinopathy, and osteopenia: a new syndrome?, Pediatr Neurol, 26:324-8, 2002