XLRS

AcronymDefinition
XLRSX-linked juvenile retinoschisis
References in periodicals archive ?
7m for the same period in 2014, which was primarily the result of increased R&D activity relating to its XLRS, ACHM, X-linked retinitis pigmentosa and other product candidates.
The patient was diagnosed with XLRS based on the findings.
XLRS is an X-linked recessive retinal dystrophy characterized by splitting of the neurosensory retina into layers.
Differential diagnosis of XLRS includes retinitis pigmentosa, acquired retinoschisis, Goldman-Favre syndrome, Wagner's disease, Stickler syndrome, macular dystrophies, choroidal dystrophies, and peripheral vitreoretinal degenerations.
Clinical findings and ERG are important for the diagnosis of XLRS, but SD-OCT has a critical role in showing the plane of separation in the neurosensory retina and the size and extent of the schisis cavities, especially in the early stages of the disease.
The most common SD-OCT finding in XLRS is extensive retinal splitting (schisis formation) in the inner nuclear layer.
Our first patient exhibited large foveal cysts, which is less common in XLRS and almost always accompanied by schisis cavities in the inner nuclear layers.
This funding will enable us to finish final testing of the treatment in animal models of XLRS as well as complete the pre-clinical safety studies required by the FDA in order to start a Phase 1 human clinical trial.