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T. Kivela, P. Lindahl, A. Majander, O. Mäkitie, L. Valanne, A. Paetau, H. Pihko, T. Linnankivi; Vitreoretinal Abnormalities in Cerebroretinal Microangiopathy With Calcifications and Cysts. Invest. Ophthalmol. Vis. Sci. 2009;50(13):5741.
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Coats’ disease is a nonhereditary unilateral retinal vascular abnormality of boys complicated with hemorrhage, retinal detachment (RD) and, sometimes, neovascular glaucoma (NVG). It is emerging that some bilateral cases, often affecting girls, represent a new recessively inherited systemic syndrome, named cerebroretinal microangiopathy with calcifications and cysts (CRMCC). We analyzed vitreoretinal findings in ten patients.
Ten children (M:F 2:8; 2 pairs were siblings and 2 additional male siblings had died upon birth) presented with intrauterine growth retardation and later developed brain calcifications and leukoencephalopathy (all children), brain cysts (5 children), and either retinal telangiectasias (TA) resembling Coats' disease or retinal angiomas. 7 were prematurely born (gw 30 to 36) and all were small-for-date (birth weight, 1.8 to 4.5 SD below mean). Their initial diagnoses had been Coats’ disease, retinopathy of prematurity (ROP), familial exudative vitreoretinopathy (FEVR), or retinal cavernous hemangioma or angioma. We reviewed their case records and examined personally 7 of them.
All children were found to have retinal disease by the age of 7 to 59 months (mean, 25) after ocular screening (4) or onset of strabismus (4) or NVG (2). All had telangiectatic retinal vessels, and 6 had retinal angiomas, which were associated with vitreoretinal traction. The retina peripheral to the telangiectasias and angiomas was avascular and reminiscent of ROP, but without a ridge. All developed RD, which typically was both traction and exudative in type, and bilateral in three. Preretinal and vitreous hemorrhages were typical. NVG followed by cataract developed in 4 children and was bilateral in 2 of them. All eventually had low vision or were blind in one eye, and 3 were bilaterally blind when last seen. Ocular involvement was highly asymmetric. Four patients died, all before 25 years of age.
Avascular retina peripheral to the hallmark telangiectasias and angiomas is a unifying feature, indicating abortive vasculogenesis, possibly linked with defective Wnt signaling because some of the findings resemble FEVR (which is dominantly inherited unlike CRMCC) and because the children may have osteopenia linked with Wnt defects. Known FEVR genes do not seem to be involved in CRMCC. Brain imaging is essential when bilateral Coats’ disease or retinal angiomas are found.
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