Barraquer Opthalmology Center

This study describes the clinical and genetic features of Meesmann epithelial corneal dystrophy (MECD) in two unrelated families and reports new genotype-phenotype associations. Ten patients from a Lebanese family (n = 4) (Family 1) and a Spanish family (n = 6) (Family 2) underwent ophthalmologic evaluation, in vivo confocal microscopy (IVCM), anterior segment optical coherence tomography (AS-OCT) with epithelial thickness mapping (ET-map), and targeted next-generation sequencing (NGS) using a custom-designed 133-gene panel associated with anterior segment dystrophies. In Family 1, a novel homozygous KRT12 c.1181T>C (p.Leu394Pro) variant was identified in the symptomatic proband and his clinically asymptomatic brother, while both parents, who were first cousins, were heterozygous for this nucleotide variant. The proband also carried the heterozygous KRT3 c.250C>T (p.Arg84Trp) variant, which has been previously reported but, to our knowledge, has not been described in co-occurrence until now. In addition, the proband showed a complex phenotype with signs of MECD and epithelial basal membrane alterations consistent with epithelial basement membrane dystrophy (EBMD). In Family 2, four affected members carried the KRT3 c.1492G>A (p.Glu498Lys) variant in heterozygosity, which has been previously described. The elderly members affected showed typical signs of MECD and EBMD. To our knowledge, these concomitant alterations have not been previously described with genetical confirmation. In conclusion, this study provides the first evidence that the co-occurrence of variants in two Meesmann corneal dystrophy-associated genes (KRT3 and KRT12) can jointly account for the disease phenotype. We also highlight the association of MECD with EBMD in both families. Characterization using IVCM and AS-OCT ET-Map provides a deeper understanding of the morphological changes and phenotypic variability in MECD, confirming the utility of this multimodal imaging approach for diagnosis and management.

Introduction: Choroidal osteoma is a benign intraocular tumor that often presents in the juxtapapillary or macular region of young adult females. Factors contributing to severe vision impairment include tumor growth to the fovea, isolated subretinal fluid (SRF), alterations of the retinal pigment epithelium, macular edema, or serosanguineous SRF related to the development of choroidal neovascularization. This paper evaluates the effectiveness of photodynamic therapy (PDT) in treating symptomatic SRF and preventing foveal involvement, providing valuable long-term data and highlighting some previously unreported minor complications related to the treatment. Case Presentations: In case 1, a 23-year-old woman with a juxtapapillary choroidal osteoma and symptomatic SRF was treated with PDT. Two months later, the visual acuity improved from 20/50 to 20/20 with complete resolution of the fluid. In case 2, an asymptomatic 22-year-old woman with a juxtapapillary choroidal osteoma was treated with a single PDT session, and progressive tumor decalcification was observed. Visual field testing after the treatment revealed the development of two small deep scotomas inferior to the physiological blind spot, which were not perceived by the patient, while visual acuity has remained at 20/20 15 years after the treatment. In case 3, a 38-year-old woman with a paracentral scotoma related to a juxtafoveal choroidal osteoma was treated with a single PDT session to prevent potential complications. Twenty days after the treatment, a subretinal hemorrhage was observed between the posterior margin of the tumor and the fovea, and 2 months later it spontaneously disappeared. Tumor decalcification was noticed 4 months after the treatment, the visual acuity dropped to 20/30, and the paracentral scotoma increased. Since then, the functional parameters have remained stable. Conclusion: This study reinforces the established role of PDT in the management of choroidal osteoma, resolving SRF, promoting tumor decalcification and preventing central tumor extension after long-term follow-up. However, it also highlights the occurrence of a self-limited subretinal hemorrhage following the application of PDT and the development of permanent paracentral scotomas as a treatment-related effect.

Starbursts are entoptic visual phenomena perceived as radial spikes around point light sources, frequently reported under scotopic conditions or following ocular surgeries such as LASIK or intraocular lens implantation. While starbursts have traditionally been attributed to high-order optical aberrations, in particular spherical aberration, we hypothesize that crystalline lens suture patterns may play a dominant role in the formation of starbursts through light diffraction. This study investigates the contribution of lens suture diffraction to starburst formation and compares it to the influence of high-order spherical aberrations. Using ex vivo porcine crystalline lenses mounted in a mechanical expansion unit, we performed through-focus imaging and aberrometric analysis with a custom optical system. Suture patterns were segmented and used to simulate diffraction-based point-spread functions (PSFs) by convolving them with a Gaussian point source. Simulated PSFs were compared to those generated using fourth- and sixth-order spherical aberration parameters. A cross-correlation analysis and angular detection of diffraction spikes were performed to assess the similarity between experimental and simulated PSFs. Results demonstrate that diffraction by crystalline lens sutures generates starburst-like PSFs, independent of high-order aberrations. Through-focus simulations revealed asymmetric Strehl ratio distributions when suture diffraction was included, suggesting that sutures significantly degrade optical quality over a broader dioptric range. Cross-correlation coefficients (τ) between experimental and simulated PSFs exceeded 0.7 in all cases, and diffraction spike orientations showed high angular consistency, confirming the predictive value of the suture diffraction model. Our findings support the hypothesis that lens sutures are the primary source of starburst formation via diffraction, with spherical aberration acting as a secondary factor.

To report a case of spontaneous resolution of subfoveal perfluorocarbon liquid (sPFCL). A 72-year-old man presented with poor vision in the OS for two months. Ophthalmic examination revealed a visual acuity of counting fingers at 40 cm, pseudophakia, and rhegmatogenous retinal detachment in the OS. The patient underwent 23 G pars plana vitrectomy associated with a scleral buckle and silicone oil. Postoperatively, a retained sPFCL bubble was observed on OCT image. Postoperatively, the sPFCL bubble disappeared spontaneously, followed by the observation of a full-thickness macular hole. Four weeks after surgery, the macular hole was closed, and visual acuity improved with preservation of foveal depression. Because spontaneous resolution rarely occurs, retinal surgeons prefer early evacuation of sPFCL. Herein, we report a new case of spontaneously resolved sPFCL and discuss the mechanisms for its resolution reported in the literature.

BACKGROUNDAddressing the growing challenge of hospitalizing chronic multimorbid patients, this study examines the strain these conditions impose on healthcare systems at a local level, focusing on a pilot program. Chronic diseases and complex patients require comprehensive management strategies to reduce healthcare burdens and improve patient outcomes. If proven effective, this pilot model has the potential to be replicated in other healthcare settings to enhance the management of chronic multimorbid patients.AIMTo evaluate the effectiveness of the high complexity unit (HCU) in managing chronic multimorbid patients through a multidisciplinary care model and to compare it with standard hospital care.METHODSThe study employed a descriptive longitudinal approach, analyzing data from the Basic Minimum Data Set (BMDS) to compare hospitalization variables among the HCU, the Internal Medicine Service, and other services at Antequera Hospital throughout 2022. The HCU, designed for patients with complex chronic conditions, integrates a patient-centered model emphasizing multidisciplinary care and continuity post-discharge.RESULTSThe study employed a descriptive longitudinal approach, analyzing data from the BMDS to compare hospitalization variables among the HCU, the Internal Medicine Service, and other services at Antequera Hospital throughout 2022. The HCU, designed for patients with complex chronic conditions, integrates a patient-centered model emphasizing multidisciplinary care and continuity post-discharge.CONCLUSIONThis study demonstrates the effectiveness of the HCU in managing patients with complex chronic diseases through a multidisciplinary approach. The coordinated care provided by the HCU results in improved patient outcomes, reduced unnecessary hospitalizations, and better management of patient complexity. The superiority of the HCU compared to standard care is evident in key outcomes such as fewer readmissions and higher patient satisfaction, reinforcing its value as a model of care to be replicated.

Purpose: To test whether any part of Soemmerring's rings developed, in‐vivo, in adults could be transparent and how this transparency relates to morphological factors.Methods: Sixteen Soemmerring's rings were extracted from donor eye globes. After frontal imaging, they were thickly sectioned sagittally in order to analyse the degrees of transparency of the cross‐section both at the periphery and center. All samples were also histologically analysed using alpha smooth muscle actin, Vimentin, wheat germ agglutinin and DAPI in order to correlate transparency to certain morphological factors.Results: When viewed frontally within the dark field, all Soemmerring's ring samples were apparently opaque. However, after sectioning, 20 of the 30 samples were more transparent in the center than at the periphery. Of the morphological factors that we analysed, only lens fibre organization at the bow region and an increased area of mature lens fibre cells had a significant relation to the degree of transparency at the center of cross‐sections.Conclusions: Soemmerring's rings can maintain the ability to produce organized and transparent areas of lens cells.