Both genetic and environmental factors have been considered to play a role in the etiology
keratoconus. Eye rubbing, and more recently eye compression due to sleeping position …

Fuchs endothelial corneal dystrophy (FECD) is a common cause for heritable visual loss in
the elderly. Since the first description of an association between FECD and common …

Eye formation is the result of coordinated induction and differentiation processes during
embryogenesis. Disruption of any one of these events has the potential to cause ocular …

The genetic basis of disease has largely focused on coding regions. However, it has
become clear that a large proportion of the noncoding genome is functional and harbors …

In contrast to recessive conditions with biallelic inheritance, identification of dominant
(monoallelic) mutations for Mendelian disorders is more difficult, because of the abundance …

The corneal endothelial monolayer and associated Descemet's membrane (DM) complex is
a unique structure that plays an essential role in corneal function. Endothelial cells are …

Abstract The Acadian variant of Fanconi Syndrome refers to a specific condition
characterized by generalized proximal tubular dysfunction from birth, slowly progressive …

Genetic mutations that cause hereditary diseases usually affect the composition of the
transcribed mRNA and its encoded protein, leading to instability of the mRNA and/or the …

Corneal dystrophies are broadly defined as inherited disorders that affect any layer of the
cornea and are usually progressive, bilateral conditions that do not have systemic effects …

Cardiovascular diseases (CVDs) constitute one of the significant causes of death worldwide.
Different pathological states are linked to CVDs, which despite interventions and treatments …