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Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis
The largest and most robust differences between the eyes of people with multiple sclerosis and control eyes were found in the peripapillary RNFL and macular GCIPL, and the consistency, robustness, and large effect size are recommended.
RPGR mutation analysis and disease: an update
Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene are the most common single cause of retinitis pigmentosa, accounting for up to 15 to 20% of cases in Caucasians. A total of 240
Alstrom syndrome (OMIM 203800): a case report and literature review
Two novel mutations in the ALMS1 gene causative for AS have been reported here, thereby increasing the number of reported mutations to 81 and providing a wider basis for mutational screening among affected individuals.
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.
To investigate whether Leber's hereditary optic neuropathy (LHON) could be caused by mutations in OPA1, a panel of 35 DOA patients who tested negatively for the three major LHON mutations were screened, indicating that DOA and LHON are genetically distinct.
Molecular findings from 537 individuals with inherited retinal disease
It is shown that clinically analysed variants indicated as rare in dbSNP and the Exome Variant Server remain rare in ExAC, and that genes discovered as a cause of IRD in the post-NGS era are rare causes ofIRD in a population of clinically surveyed individuals.
Global birth prevalence of congenital heart defects 1970–2017: updated systematic review and meta-analysis of 260 studies
The reported prevalence of CHD globally continues to increase, with evidence of severe unmet diagnostic need in Africa and the recent prevalence in Asia for the first time appears higher than in Europe and America, suggesting higher genetic or environmental susceptibility to CHD among Asian people.
Personalized diagnosis and management of congenital cataract by next-generation sequencing.
This analysis demonstrates the clinical utility of this test, providing examples where it altered clinical management, directed care pathways, and enabled more accurate genetic counseling, and will extend access to genetic testing and lead to improved diagnostic and management outcomes through a stratified medicine approach.
Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome
Results from molecular genetic analysis using markers located within the previously mapped COH1 critical region support allelic but not genetic heterogeneity in this UK cohort.
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease
The new NGS approach delivers a step change in the diagnosis of inherited eye disease, provides precise diagnostic information and extends the possibility of targeted treatments including gene therapy.