Background Structural retinal imaging biomarkers are important for early recognition and
monitoring of inflammation and neurodegeneration in multiple sclerosis. With the …

The mucopolysaccharidoses (MPSs) are a group of disorders caused by inherited defects in
lysosomal enzymes resulting in widespread intra-and extra-cellular accumulation of …

Fibrillins form the structural framework of a unique and essential class of extracellular
microfibrils that endow dynamic connective tissues with long–range elasticity. Their …

Fibrillin is the principal structural component of the 10-12 nm diameter elastic microfibrils of
the extracellular matrix. We have previously shown that both fibrillin molecules and …

Purpose To assess the utility of integrating genomic data from next-generation sequencing
and phenotypic data to enhance the diagnosis of bilateral congenital cataract (CC). Design …

Aims The mucopolysaccharidoses (MPS) are a heterogeneous group of rare disorders
characterised by accumulation of glycosaminoglycans within multiple organ systems. This …

Congenital cataract is the commonest worldwide cause of lifelong visual loss in children.
Although congenital cataracts have a diverse aetiology, in many children, a cause is not …

Abstract Introduction Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an
autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N …

Summary Background The WHO VISION 2020 global initiative against blindness, launched
in 2000, prioritised childhood visual disability by aiming to end avoidable childhood …

Ocular pathology is common in patients with mucopolysaccharidosis (MPS), a hereditary
lysosomal storage disorder, where the eye as well as other tissues accumulate excessive …