Abstract
An 8-month-old girl presented with vitreous hemorrhage, peripheral retinal arteriovenous anastomosis, and hypoplasia of the thumb. Magnetic resonance imaging of the brain showed multiple hyperintensities, cysts, and calcifications in the white matter. 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. In infants with peripheral retinal vascular disease, neuroimaging can identify the characteristic abnormalities of CRMCC.
Copyright © 2017 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.
MeSH terms
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Alleles
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Arteriovenous Anastomosis / pathology
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Ataxia / diagnostic imaging*
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Ataxia / genetics
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Brain Neoplasms / diagnostic imaging*
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Brain Neoplasms / genetics
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Calcinosis / diagnostic imaging*
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Calcinosis / genetics
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Central Nervous System Cysts / diagnostic imaging*
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Central Nervous System Cysts / genetics
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Female
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Fluorescein Angiography
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Hearing Loss, Sensorineural / diagnosis
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Humans
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Infant
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Laser Coagulation
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Leukoencephalopathies / diagnostic imaging*
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Leukoencephalopathies / genetics
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Magnetic Resonance Imaging
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Muscle Spasticity / diagnostic imaging*
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Muscle Spasticity / genetics
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Mutation
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Retinal Detachment / diagnosis
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Retinal Detachment / surgery
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Retinal Diseases / diagnostic imaging*
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Retinal Diseases / genetics
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Seizures / diagnostic imaging*
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Seizures / genetics
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Telomere-Binding Proteins / genetics
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Thumb / abnormalities
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Vitreous Hemorrhage / diagnosis
Substances
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Ctc1 protein, human
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Telomere-Binding Proteins
Supplementary concepts
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Cerebroretinal Microangiopathy with Calcifications and Cysts