Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia.

High myopia is the most severe and pathological form of myopia. It occurs when the spherical refractive error exceeds -6.00 spherical diopters (SDs) or the axial length (AL) of the eye is greater than 26 mm. This article focuses on early-onset high myopia, an increasingly common condition that affects children under 10 years of age and can lead to other serious ocular pathologies. Through the genetic analysis of 21 families with early-onset high myopia, this study seeks to contribute to a better understanding of the role of genetics in this disease and to propose candidate genes. Whole-exome sequencing studies with a panel of genes known to be involved in the pathology were performed in families with inconclusive results: 3% of the variants found were classified as pathogenic, 6% were likely pathogenic and the remaining 91% were variants of uncertain significance. Most of the families in this study were found to have alterations in several of the proposed genes. This suggests a polygenic inheritance of the pathology due to the cumulative effect of the alterations. Further studies are needed to validate and confirm the role of these alterations in the development of early-onset high myopia and its polygenic inheritance.

Can the dexamethasone intravitreal implant Ozurdex be safely administered in an out-of-operating room setting?

Purpose: To describe a standardized protocol of the dexamethasone intravitreal (DEX) implant Ozurdex (Allergan, Dublin, Ireland) performed in a controlled environment surgical cabin (CESC). Methods: Retrospective and observational study conducted on patients who underwent a DEX implant between May 2011 and June 2019, in a third level University Hospital. The controlled environment surgical cabin (ArcSterile, Imex, Valencia, Spain) used in this study was the MB 20 (2 m width, 1.60 m depth, and 2 m height) with an uninterrupted power system (ARSSAI1) to keep the cabin working for 20 min. The cabin was used in the open mode. A standardized protocol of intravitreal injections in controlled environment surgical cabin was designed. Results: From May 2011 to February 2015, a total of 454 DEX implants were performed in the operating room, whereas from March 2015 to June 2019, 1054 DEX devices were implanted using the CESC. The mean number of DEX implants/per week was significantly lower in the operating room than in the CESC [2.3 (2.1 to 2.5) versus 3.8 (3.6 to 4.1), mean difference 1.5 (1.2 to 1.8), p < 0.0001]. The incidence of endophthalmitis was similar in the two populations, 0/454 (0.0%; 95% CI 0.0 to 0.81%) and 0/1054 (0.0%; 95% CI 0.0 to 0.35%) in the operating room and in the CESC, respectively. Conclusions: The CESC may be a good alternative to the conventional operating room for the administration of the intravitreal DEX implant.

Accidental injections of dexamethasone intravitreal implant (Ozurdex) into the crystalline lens.

PURPOSE: To describe the side effects and management after inadvertent injection of a dexamethasone implant (Ozurdex) into the crystalline lens. METHODS: Two case reports. RESULTS: Two patients with macular edema due to unilateral retinal vein occlusion were scheduled for an intravitreal injection of Ozurdex. During the procedure, the implant was accidentally injected into the crystalline lens. Both patients developed cataracts during the course of several weeks and in both there was an intraocular pressure (IOP) increase, which required treatment with topical hypotensives. Macular edema improved only slightly. Cataract surgery with uneventful removal of the implant was performed 3 (case 1) and 6 months (case 2) after the injection. CONCLUSIONS: After inadvertent injection of Ozurdex into the crystalline lens, cataract surgery with removal of the implant should be performed as soon as possible in order to avoid IOP increase and so that the underlying condition may be treated adequately.