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Purpose: Pathogenic variants in the CLDN19 gene are responsible for Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC) with ocular pathology (MIM *248190). Our objective was to delineate the ophthalmological and genetic manifestations of a patient with FHHNC and a pathogenic variant in CLDN19. Case report: A 25-year-old woman presented with renal involvement and a best-corrected visual acuity of 20/25 in the right eye and finger-counting ability in the left eye. The patient exhibited high myopia, convergent strabismus, and chorioretinal atrophic plaques in the perifoveal and peripapillary areas. We conducted a comprehensive ophthalmological examination, including refraction, fundoscopy, color and autofluorescence retinography, optical coherence tomography, and electrophysiology tests. Additionally, next-generation sequencing was performed using Illumina NextSeq500. We identified a homozygous missense variant, c.59G>A p.Gly20Asp, in the CLDN19 gene as the cause of renal and ocular manifestations. Conclusion: FHHNC is associated with various ocular alterations. The unique retinal disorders described in this article suggest a more favorable visual prognosis compared to those previously reported in the literature. Determining the phenotypic diversity of this disease may aid in the diagnosis and management of future cases. [ABSTRACT FROM AUTHOR]

Purpose: Metaplasia, chronic inflammation and subconjunctival fibrosis favor failure of bleb-dependent glaucoma surgery. The aim of the study is to identify the patients at a higher risk of post-surgical failure., Materials and Methods: Prospective, open study, performed in the Glaucoma Unit of the Hospital Universitario Virgen Macarena, from April to November 2021, with a minimum follow-up of one year. 38 eyes with ocular hypertension or chronic open-angle glaucoma were included. All patients underwent preoperative conjunctival sampling in the operating room, under topical or locoregional anesthesia., Parameters Measured: Sex, age, and laterality; number, type and mean time of preoperative drugs use; type of surgery performed; cytology results and degree of metaplasia; percentage of patients in whom the bleb was closed. Evaluation of potential correlation between bleb closure and any of the other variables., Results: 20 women and 18 men participated, with a mean age of 67 years. The mean number of preoperative hypotensive drugs was 2.7. The mean time of use was 90,97 +/- 48,97 months. Most patients had normal cytology, 8% had inflammatory infiltrate and 21% had squamous metaplasia. When relating bleb failure and cytology, we saw that in those who failed surgery, more than half had cytological alterations. A multiple logistic regression was performed, in which we observed that there was statistically significant association ( p  = .02) between surgical closure and altered cytology., Conclusions: According to these results, preoperative conjunctival cytology can help predict those cases with a lower probability of surgical success.

Purpose: To report a case of isolated conjunctival inflammation as initial manifestation of IgG4-related disease and subsequent development of panuveitis., Case Report: A 75-year-old female presented with a diffuse mass lesion in the temporal area of the left eye, involving the conjunctiva, and an abscessed corneal ulcer. An incisional biopsy was diagnostic of IgG4-related disease with an elevated IgG4/IgG ratio (>40%) and the presence of >10 cells that tested positive for IgG4/CGA. No other ocular, orbital or systemic manifestations were noted at the time of diagnosis. After a year of treatment with topical dexamethasone, oral prednisone, and methotrexate, the patient developed panuveitis, which was controlled by increasing steroids and switching to rituximab., Conclusion: IgG4-related disease is a rare entity that can be particularly challenging to diagnose if it manifests in an atypical manner. Continuous follow-up of patients is crucial as relapses and worsening of symptoms can occur despite treatment.

Purpose: Despite the well-known consequences of burnout syndrome, there has been little research into this syndrome in the field of ophthalmology. Our objective is to determine the frequency of burnout syndrome between Spanish, Portugal and Latin-American ophthalmologists, as well as to analyse its relationship with different sociodemographic variables., Methods: This is an observational cross-sectional descriptive study including ophthalmologists from Spain, Portugal and 15 Latin American countries. Burnout syndrome was evaluated by the Maslach Burnout Inventory-Human Services Survey. Burnout syndrome was defined as high emotional exhaustion, high depersonalization or low personal accomplishment. In addition, we recorded sociodemographic variables and aspects related to the type of work. A conditional backwards stepwise multivariate binomial logistic regression analysis was run to assess the variables associated with burnout syndrome, expressed as an odds ratio (OR)., Results: A total of 527 surveys were analysed, the majority from Spain (401; 76.1%), followed by Argentina (45; 8.5%), and Mexico (31; 5.9%). The number of ophthalmologists with burnout syndrome was 351 (66.6%). The results show the profile of a young ophthalmologist (age OR 0.985), carrying out a public activity (OR 2.118) and dedicated to general ophthalmology (OR 1.860)., Conclusions: The frequency detected in this study confirms a steady increase in rates of burnout among ophthalmologists. As the consequences of this are well known, it is vital for health centre managers to develop a strategic plan to allow the causes to be understood better and to implement steps to improve the situation in each medical centre., (© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)

Purpose: To describe the clinical and genetic characteristics (novel mutation in BEST1 gene) of a Spanish patient with autosomal recessive bestrophinopathy (ARB)., Methods: The detailed ophthalmological examination included best corrected visual acuity (BCVA), color and autofluorescence photography, fluorescein angiography, optical coherence tomography, and electrophysiology tests. A next-generation sequencing (NGS) strategy was applied to the index patient, and then sequenced in an Illumina NextSeq500 system., Results: A 55-year-old male presented with a BCVA of 20/25 in the right eye and 20/20 in the left eye. Fundoscopy revealed perifoveal yellow flecked-like lesions. Fluorescein angiography and fundus autofluorescence results were consistent with pattern dystrophy. A homozygous frameshift mutation in BEST1 (c.341_342del; p.(Leu114Glnfs*57)) was identified as the cause of the disease., Conclusion: ARB is a genetic disease that leads to irreversible visual loss. In this report we found a novel mutation responsible for this disease.