BACKGROUND Knobloch syndrome is a rare, autosomal recessive, developmental disorder characterized by stereotyped ocular abnormalities with or without occipital skull deformities (encephalocele, bone defects, and cutis aplasia). Although there is clear heterogeneity in clinical presentation, central nervous system malformations, aside from the characteristic… (More)
BACKGROUND Cataract surgery is associated with the development of late-onset age-related macular degeneration (AMD). The pathogenic mechanism is still not fully established. The purpose of this study was to evaluate the possible changes in central macula thickness (CMT) and subfoveal choroid thickness (SCT) after uneventful cataract surgery. MATERIAL AND… (More)
Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.