Coats Plus Syndrome and LCC Syndrome: Series of 10 Pediatric Cases. Review of Literature and Natural History
Summary
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The description of a new series of unpublished cases, as well as a comprehensive review of the literature on Coats plus syndrome, will provide a more comprehensive and informed view of this disease.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.
Study Design
Conditions
Coats Disease
Intervention
data collection
Status
Not yet recruiting
Source
University Hospital, Limoges
Results (where available)
Links
- Source: http://clinicaltrials.gov/show/NCT04089995
- ClinicalTrials.gov processed this data on September 18, 2019
Published on BioPortfolio: 2019-09-19T03:56:38-0400
Clinical Trials
Interest of Intravitreal Injections of Anti-VEGF as Initial and Adjuvant Treatment in Coats Disease
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...
Epidemiology of Carbapenemase-producing Bacteria in a Swiss Tertiary Care Hospital
This retrospective and prospective study is to investigate the incidence of Carbapenemase-producing bacteria (CPB) at the University Hospital Basel, the time to detection of CPB and to ini...
The goal of this data review study is to collect data to learn more about thyroid, parathyroid, and adrenal disease.
Pragmatic study comparing historical data from usual collection tools to medical administrative databases (local / national PMSI and CRF / SNIIRAM). There are 3 phases to the data collecti...
HBP Device EGM Data Collection
This is a single-arm, non-randomized, non-blinded study designed to collect device data in patients with permanent His bundle (HB) pacing lead and an existing Abbott permanent pacemaker, d...
PubMed Articles
Coats Disease: Clinical Features and Outcomes by Age Category in 351 Cases.
To investigate features and outcomes of Coats disease by patient age.
Predictors of enucleation in Coats disease: analysis of 259 eyes of 259 patients at a single center.
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.
Visual acuity outcomes in Coats disease by classification stage in 160 patients.
To assess visual outcomes of Coats disease by classification stage.
Adult Coats' Disease, Dubin-Johnson Syndrome, and the Search for Targeted Therapies.
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...
Medical and Biotech [MESH] Definitions
Data Collection
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.
Health Surveys
A systematic collection of factual data pertaining to health and disease in a human population within a given geographic area.
Preliminary Data
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.
Epidemiological Monitoring
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.
Library Collection Development
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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