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Coats plus syndrome is a very rare and serious disease, caused by premature telomere shortening. It is a pediatric, multi-systemic disease, the main features of which are retinal vasculopathy and neurological disorders, associated with brain calcification and leukodystrophy. Its precise genetic etiology was discovered in 2012: autosomal recessive mutation of the CTC1 gene.
Publications about this syndrome are very few, and consist only of case reports, or small series of cases. This is explained by the rarity of occurrence of this syndrome. Since 1988, 57 cases of Coats plus syndrome have been published, with case series of up to 13 patients. Only 28 cases were detailed concerning the precise clinical presentation in the literature.
The general characteristics of this syndrome are known and, in addition to the ophthalmological and neurological damage, the various publications have been able to report a digestive attack (hemorrhages), hematological damage (central cytopenias), or increased bone fragility. No treatment is currently available to cure patients.
The natural history of this disease is poorly known. However, the most accurate knowledge possible of this disease, and its natural history, is essential. It would allow an easier identification of this rare syndrome, the establishment of a management (monitoring and therapeutic) adapted, and a more accurate genetic counseling in case of need of a prenatal diagnosis.
The description of a new series of unpublished cases, as well as a comprehensive review of the literature on Coats plus syndrome, will provide a more comprehensive and informed view of this disease.
Moreover, LCC syndrome (leukoencephalopathy with calcifications and cysts) is an autosomal recessive disorder linked to a mutation in the SNORD118 gene, which has the particularity of presenting the same neurological (neuro-radiological and clinical) characteristics, but without associating the others. ophthalmological and systemic disorders. It constitutes the differential radiological diagnosis of Coats plus syndrome. In this, the collection of medical data of French pediatric cases presenting this syndrome will allow a more detailed analysis of the differences and similarities between these two syndromes.
Not yet recruiting
University Hospital, Limoges
Published on BioPortfolio: 2019-09-19T03:56:38-0400
Coats disease is a predominantly unilateral progressive retinal vascular disease, characterized by retinal telangiectasias with intra- or subretinal exudate deposits, which can lead to ret...
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To evaluate the effects of clinical features associated with enucleation in eyes with Coats disease.
The aim of this study was to investigate factors predictive of subretinal fluid (SRF) resolution in Coats disease.
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Coats' disease is nonhereditary retinal vascular disorder characterized by telangiectatic retinal vessels with prominent aneurysmal changes and exudation. A conclusive etiology has not yet been determ...
Systematic gathering of data for a particular purpose from various sources, including questionnaires, interviews, observation, existing records, and electronic devices. The process is usually preliminary to statistical analysis of the data.
A systematic collection of factual data pertaining to health and disease in a human population within a given geographic area.
First-released version of study results in a series of data collection efforts used for the purpose of generating further interest in and or funding of a research study.
Collection, analysis, and interpretation of data about the frequency, distribution, and consequences of disease or health conditions, for use in the planning, implementing, and evaluating public health programs.
Development of a library collection, including the determination and coordination of selection policy, assessment of needs of users and potential users, collection use studies, collection evaluation, identification of collection needs, selection of materials, planning for resource sharing, collection maintenance and weeding, and budgeting.
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