In-Office Lens Repositioning for Anterior Crystalline Lens Dislocation.

BACKGROUND AND OBJECTIVE: We describe an in-office lens repositioning technique for anterior crystalline lens dislocation. PATIENTS AND METHODS: We present a case series of four patients with spontaneous or traumatic anterior crystalline lens dislocation. RESULTS: The technique included supine patient positioning, gentle pressure with a cotton swab on the peripheral cornea to guide the lens into the posterior chamber, and the use of a miotic agent afterward to prevent subsequent subluxation. In the four cases described, the in-office technique successfully restored the lens to the posterior chamber, improved vision, and decreased intraocular pressure in most instances by resolving the angle closure secondary to pupillary block. CONCLUSIONS: The in-office lens repositioning technique is appropriate as an acute non-surgical intervention or temporizing measure for anterior crystalline lens dislocation. [Ophthalmic Surg Lasers Imaging Retina 2024;55:293-298.].

Systemic Associations with Keratoconus.

Keratoconus is a disease of the cornea that results in progressive steepening and thinning of the cornea and subsequent vision loss. It nearly always presents as a bilateral disease, suggesting that there is an underlying abnormality of the corneas that becomes manifest with time. However, the mechanisms underlying the development of keratoconus are largely unknown. Associations reported between keratoconus and systemic diseases are abundant in the literature, and the list of possible associations is very long. We found that atopy, Down syndrome, and various connective tissue diseases were the most frequently cited associations in our broad literature search. Additionally, Diabetes Mellitus has been increasingly studied as a possible protective factor against keratoconus. In this review, we have summarized the evidence for and against these particular systemic conditions and keratoconus and have discussed some of the implications of keratoconus patients having these conditions.

Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases.

Okur-Chung Neurodevelopmental Syndrome (OCNDS) and Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS) were recently identified as rare neurodevelopmental disorders. OCNDS and POBINDS are associated with heterozygous mutations in the CSNK2A1 and CSNK2B genes which encode CK2α, a serine/threonine protein kinase, and CK2ß, a regulatory protein, respectively, which together can form a tetrameric enzyme called protein kinase CK2. A challenge in OCNDS and POBINDS is to understand the genetic basis of these diseases and the effect of the various CK2⍺ and CK2ß mutations. In this study we have collected all variants available to date in CSNK2A1 and CSNK2B, and identified hotspots. We have investigated CK2⍺ and CK2ß missense mutations through prediction programs which consider the evolutionary conservation, functionality and structure or these two proteins, compared these results with published experimental data on CK2α and CK2ß mutants, and suggested prediction programs that could help predict changes in functionality of CK2α mutants. We also investigated the potential effect of CK2α and CK2ß mutations on the 3D structure of the proteins and in their binding to each other. These results indicate that there are functional and structural consequences of mutation of CK2α and CK2ß, and provide a rationale for further study of OCNDS and POBINDS-associated mutations. These data contribute to understanding the genetic and functional basis of these diseases, which is needed to identify their underlying mechanisms.