Víctor Charoenrook

Enterobacter cloacae Keratitis in a Patient with Severe Dry Eye: A Rare Case - Turkish Journal of Ophthalmology

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.

Purpose: Tibial bone keratoprostheses are used in situations where conventional corneal transplantation is not viable. However, the prognosis is often guarded in cases of ocular surface diseases, such as autoimmune conditions or chemical burns, because of the risk of tissue necrosis and subsequent prosthesis extrusion. In this study, we describe an innovative approach using a dermal fat graft to manage keratoprosthesis (KPro) exposure and avoid extrusion. Methods: We report the case of a man with a history of bilateral chemical burns caused by caustic soda, who underwent tibial bone keratoprosthesis implantation in the left eye. The procedure was later complicated by buccal mucosa necrosis, leading to prosthesis exposure. This was successfully managed with a dermal fat graft. Clinical history, examination findings, imaging, and a literature review are presented. Results: At 5 years of follow-up, the KPro remained well positioned, with the dermal fat graft fully epithelialized and no evidence of extrusion or other complications. The patient maintained a stable uncorrected visual acuity of 0.3. Conclusions: This case provides the first evidence of a favorable outcome following dermal fat graft implantation as a treatment for KPro exposure to prevent extrusion. Since KPro extrusion is one of the most frequent postoperative complications, its prevention is of utmost importance. The use of a dermal fat graft in such high-risk cases may offer a more stable and biocompatible solution for long-term prosthesis retention.

Background/Objectives: to report a novel KRT3 Meesmann corneal dystrophy (MECD) mutation and its clinical findings in a Spanish family, thus completing the international database. Case series study. Methods: Two generations of three family members were studied. The clinical ophthalmologic evaluation was made including best-corrected visual acuity (BCVA), biomicroscopy with and without fluorescein, fundoscopy, Schirmer test I, non-invasive break-up time (NiBUT), and esthesiometry. In vivo confocal microscopy (IVCM), anterior segment optical coherence tomography (AS-OCT) with an epithelial map, and genetic analysis were also performed. Results: A novel heterozygous mutation in the KRT3 gene c.1527G>T (p. Glu509Asp) was identified. Biomicroscopy revealed bilateral multiple corneal intraepithelial cysts. IVCM showed numerous and relatively small microcysts (12–32 µm), hyperreflective materials, subepithelial nerve and Bowman’s layer alterations. AS-OCT scan revealed diffuse hyperreflectivity and the epithelial map displayed thickening of the corneal epithelium in the interpalpebral zone (proband: 52–68 µm and father’s proband: 55–71 µm) with a slightly thinned cornea. Conclusions: We identified a new mutation in the KRT3 gene–c.1527G>T (p. Glu509Asp) in a Spanish family with MECD. A comprehensive characterization of the clinical signs, using different techniques, especially an epithelial map, could be useful to diagnose and monitor epithelial changes by quantitative measures. Epithelial map changes provide better understanding of MECD differential epithelial behavior and its progression changes. Larger studies will be necessary to better understand these specific patterns and clinically evaluate new therapies.

Purpose: The aim of this study was to describe the clinical, tomographic, and genetic findings of 2 Spanish siblings with brittle cornea syndrome and report a new mutation of gene ZNF469 implicated in the development of this disorder. Methods: In this study, 2 male siblings who had been diagnosed with brittle cornea syndrome underwent ophthalmologic and genetic assessment. Results: A novel homozygous deletion c.2972del, p.(Pro991Hisfs62) in the ZNF469 gene was identified in a Spanish family. Conclusions: This is the first report of a ZNF469 mutation in a Spanish family causing brittle cornea syndrome. The discovery of this new mutation amplifies the spectrum of ZNF469 variants implicated in this syndrome.