A patient with mitochondrial myopathy is described. Examination of his fundus revealed bilateral vitelliform degeneration of the maculae. This lesion is a focal abnormality of the retinal pigment epithelium and may be a manifestation of the underlying mitochondrial disease.

A theory is developed for the description of ballooning instability in the intermediate nonlinear regime for general magnetic configurations including toroidal systems such as tokamaks. The evolution equations for the plasma filament growth induced by the ballooning instability are derived accounting for the dominant nonlinear effects in an ideal MHD description. The intermediate nonlinear regi...

In this work we develop a theory of ballooning instability in the intermediate nonlinear regime for general magnetic configurations including tokamaks. The evolution equations for plasma filament growth induced by the ballooning instability are derived accounting for the dominant nonlinear effects in an ideal MHD description. The intermediate nonlinear regime of ballooning modes is defined by t...

Tears of the retinal pigment epithelium (RPE) are most commonly associated with vascularised RPE detachment due to age-related macular degeneration (AMD), and they usually involve a deleterious loss in visual acuity. Recent studies suggest an increase in RPE tear incidences since the introduction of anti-vascular endothelial growth factor (anti-VEGF) therapies as well as a temporal association ...

BACKGROUND Age-related macular degeneration (AMD) is the most common cause of irreversible visual loss in industrialized countries. Early symptoms of AMD include drusen and changes in retinal pigment epithelium. However, the etiology of AMD and drusen formation is not fully understood. Recent studies suggest that CYP2C8-related metabolic processes might play an important role in the development...

Macular dystrophies are a heterogeneous group of diseases characterized either by retina pigment epithelium (RPE) atrophy or by the deposit of substances –mainly lipofuscin above or below the RPE. Outer retinal tubulation (ORT) was described recently in tomographic images as pseudo-cystic spaces surrounded by a hyper-reflective wall located in the outer retinal layers.1,2 We have analyzed the p...

In several retinal degenerative diseases, including age-related macular degeneration, the retinal pigment epithelium, a highly functionalized cell monolayer, becomes dysfunctional. These retinal diseases are marked by early retinal pigment epithelium dysfunction reducing its ability to maintain a healthy retina, hence making the retinal pigment epithelium an attractive target for treatment. Cel...

Mutations in the retinal pigment epithelium gene encoding RPE65 are a cause of the incurable early-onset recessive human retinal degenerations known as Leber congenital amaurosis. Rpe65-deficient mice, a model of Leber congenital amaurosis, have no rod photopigment and severely impaired rod physiology. We analyzed retinoid flow in this model and then intervened by using oral 9-cis-retinal, atte...