Combined therapy of bilateral transcranial direct current stimulation and ocular occlusion improves visual function in adults with amblyopia, a randomized pilot study.

Background: Amblyopia is the interocular visual acuity difference of two lines or more with the best correction in both eyes. It is treated with ocular occlusion therapy, but its success depends on neuroplasticity, and thus is effective in children but not adults. Transcranial Direct Current Stimulation (tDCS) is suggested to increase neuroplasticity.

Experimental and theoretical 2p core-level spectra of size-selected gas-phase aluminum and silicon cluster cations: chemical shifts, geometric structure, and coordination-dependent screening.

We present 2p core-level spectra of size-selected aluminum and silicon cluster cations from soft X-ray photoionization efficiency curves and density functional theory. The experimental and theoretical results are in very good quantitative agreement and allow for geometric structure determination. New ground state geometries for Al, Si, Si, and Si are proposed on this basis.

Maximum spin polarization in chromium dimer cations as demonstrated by X-ray magnetic circular dichroism spectroscopy.

X-ray magnetic circular dichroism spectroscopy has been used to characterize the electronic structure and magnetic moment of Cr2 (+) . Our results indicate that the removal of a single electron from the 4sσg bonding orbital of Cr2 drastically changes the preferred coupling of the 3d electronic spins. While the neutral molecule has a zero-spin ground state with a very short bond length, the molecular cation exhibits a ferromagnetically coupled ground state with the highest possible spin of S=11/2, and almost twice the bond length of the neutral molecule.

Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.

Purpose: To report the clinical, ophthalmic, and genetic characteristics for lattice corneal dystrophy type I (LCDI) in a Chilean family.

Methods: Six affected family members were examined clinically including visual acuity, color cornea photography, applanation tonography, and fundoscopy. Genomic DNA was extracted from peripheral leukocytes from six affected and three unaffected members of a family with lattice corneal dystrophy type I.

Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).

Purpose: Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis. It has been demonstrated that CFEOM1 results from mutations in KIF21A and CFEOM2 from mutations in PHOX2A.

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We identified six different mutations in 44 of 45 probands.