No abstract

Such data contrast with the late-onset ocular changes observed in animal models, indicating caution should be exercised when inferring human retinal pathophysiology from information based on other species.

Supplemental Digital Content is Available in the Text. In this article, we review the clinical characteristics of Leber congenital amaurosis due to CEP290 mutations (LCA10) and its impact on patients and society. We discuss the challenges associated with differential diagnosis of LCA10, the significant burden of childhood visual impairment, and the investigational treatment strategies currently in development.

No abstract

Herpes zoster (HZ) is an acute infection caused by reactivation of the latent varicella-zoster virus [1]. Herpes zoster ophthalmicus (HZO) occurs when inflammation spreads from the ganglion of Gasser to the ophthalmic branch of the trigeminal nerve. Optic neuritis, a very rare sequela of HZO [2-4], can occur simultaneously to the acute vesicular skin eruption or, more frequently, as a postherpetic complication. We report on a 74-year-old woman who presented with HZ optic neuritis 45 days after developing an incompletely treated bout of trigeminal HZ, characterized only by pruritus. It is important to value the non-specific manifestations of cutaneous HZ in the prodromal phase, so as to offer timely and appropriate treatment.

Purpose Previous studies suggest that ceramide is a proapoptotic lipid as high levels of ceramides can lead to apoptosis of neuronal cells, including photoreceptors. However, no pathogenic variant in ceramide synthases has been identified in human patients and knockout of various ceramide synthases in mice has not led to photoreceptor degeneration. Methods Exome sequencing was used to identify candidate disease genes in patients with vision loss as confirmed by standard evaluation methods, including electroretinography (ERG) and optical coherence tomography. The vision loss phenotype in mice was evaluated by ERG and histological analyses. Results Here we have identified four patients with cone-rod dystrophy or maculopathy from three families carrying pathogenic variants in TLCD3B . Consistent with the phenotype observed in patients, the Tlcd3b KO/KO mice exhibited a significant reduction of the cone photoreceptor light responses, thinning of the outer nuclear layer, and loss of cone photoreceptors across the retina. Conclusion Our results provide the first link between loss-of-function variants in a ceramide synthase gene and human retinal dystrophy. Establishment of the Tlcd3b knockout murine model, the first in vivo photoreceptor cell degeneration model due to loss of a ceramide synthase, will provide a unique opportunity in probing the role of ceramide in survival and function of photoreceptor cells.

No abstract

No abstract