Optic Neuropathy AFG3L2 Related in a Patient Affected by Congenital Stationary Night Blindness.

We describe a patient affected by congenital stationary night blindness (CSNB) secondary to CACNA1F and optic neuropathy associated with an AFG3L2 variant. We performed comprehensive neuro-ophthalmologic examinations, retinal imaging, complete ocular electrophysiology, and brain and optic nerve MRI. Genomic DNA was extracted from the peripheral blood.

The TOG5 domain of CKAP5 is required to interact with F-actin and promote microtubule advancement in neurons.

Microtubule (MT) and F-actin cytoskeletal cross-talk and organization are important aspects of axon guidance mechanisms, but how associated proteins facilitate this function remains largely unknown. While the MT-associated protein, CKAP5 (XMAP215/ch-TOG), has been best characterized as a MT polymerase, we have recently highlighted a novel role for CKAP5 in facilitating interactions between MT and F-actin and in embryonic neuronal growth cones. However, the mechanism by which it does so is unclear.

Video Color OCT Angiography for Myopic Choroidal Neovascularization.

Purpose: To investigate the myopic macular neovascularization (mMNV) features on dynamic video color OCT angiography (OCTA) and the diagnostic rate versus the static, 4-segmentations visualization mode.

Design: Retrospective cohort study.

Participants: Fifty-four patients with mMNV.

Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.

Inherited retinal diseases (IRDs) represent a frequent cause of blindness in children and adults. As a consequence of the phenotype and genotype heterogeneity of the disease, it is difficult to have a specific diagnosis without molecular testing. To date, over 340 genes and loci have been associated with IRDs.