Subconjunctival Dirofilaria masquerading as nodular scleritis.

A man in his late 50s presented with a gradually enlarging, painless, reddish mass on the white portion of his left eye for 2 weeks. His best-corrected visual acuity was 20/20 in both eyes. Slit-lamp examination showed a congested, nodular, elevated lesion on the temporal bulbar conjunctiva with two pustule-like elevations. Anterior segment optical coherence tomography showed a subconjunctival solid mass rather than an abscess or a cyst. Scleral deroofing was performed and a long thread-like object resembling a dead worm was identified. The worm was removed intact, and its histopathology confirmed the diagnosis of Dirofilaria Peripheral blood smear did not show any microfilariae. No recurrences or new lesions were observed during the follow-up examinations at 1 and 5 months post-surgery. This case highlights the importance of considering a parasitic aetiology in cases of nodular or infectious scleritis.

Global Transcriptomic Profiling of Innate and Adaptive Immunity During Aspergillus flavus Endophthalmitis in a Murine Model.

Purpose: Fungal endophthalmitis is characterized by chronic inflammation leading to the partial or complete vision loss. Herein, we analyzed the transcriptomic landscape of Aspergillus flavus (A. flavus) endophthalmitis in C57BL/6 mice to understand the host-pathogen interactions. Methods: Endophthalmitis was induced by intravitreal injection of A. flavus spores in C57BL/6 mice and monitored for disease progression up to 72 hours. The enucleated eyeballs were subjected to histopathological analysis and mRNA sequencing using the Illumina Nextseq 2000. Pathway enrichment analysis was performed to further annotate the functions of differentially expressed genes (DEGs) and validation of cytokines was performed in vitreous of patients with fungal endophthalmitis using multiplex ELISA. Results: Transcriptomic landscape of A. flavus endophthalmitis revealed upregulated T-cell receptor signaling, PI3K-AKT, MAPK, NF-κB, JAK-STAT, and NOD like receptor signaling pathways. We observed significant increase in the T-cells during infection especially at 72 hours infection along with elevated expression levels of IL-6, IL-10, IL-12, IL-18, IL-19, IL-23, CCR3, and CCR7. Furthermore, host-immune response associated genes, such as T-cell interacting activating receptor, TNF receptor-associated factor 1, TLR1, TLR9, and bradykinin receptor beta 1, were enriched. Histopathological assessment validated the significant increase in inflammatory cells, especially T-cells at 72 hours post-infection along with increased disruption in the retinal architecture. Additionally, IL-6, IL-8, IL-17, TNF-α, and IL-1ß were also significantly elevated, whereas IL-10 was downregulated in vitreous of patients with Aspergillus endophthalmitis. Conclusions: Regulating T-cell influx could be a potential strategy to modulate the excessive inflammation in the retina and potentially aid in better vision recovery in fungal endophthalmitis.

Lacrimal Sac Characteristics in Patients With Punctal and Canalicular Agenesis: Punctum Update (PUP) Study-Paper 3.

PURPOSE: To explore the endoscopic and histopathologic characteristics of the lacrimal sac (LS) and the nasolacrimal duct in cases with punctal agenesis presenting with LS swellings. METHODS: This is a prospective, interventional study of 13 LSs of 8 patients presenting with punctal agenesis and LS swellings over a 5-year study period (June 2018-July 2023). Complete ophthalmic examination was performed along with CT scans of the orbits. The LS was exposed with an anterior lacrimal crest incision and explored. The exterior and interior of the sac swelling were examined and LS flaps were sent for histopathological analysis. RESULTS: The mean age of the patients was 23 years with a male:female ratio of 5:3. All patients presented with swelling in the LS region. Occasional epiphora was the presenting feature in 6 patients. All patients had both upper and lower punctal agenesis on the affected side with associated LS swelling. CT scans showed a hypodense cystic swelling with expansion of the LS fossa and bony nasolacrimal duct ending abruptly short of the inferior meatus. Intraoperatively, the LS had thin, translucent walls with mucoid secretion and an absence of common canalicular opening. Histopathological analysis showed epithelium consistent with LS with less robust development of the sac walls and poorly structured lacrimal drainage-associated lymphoid tissue with scanty stromal inflammation. CONCLUSIONS: The development of LS and the nasolacrimal duct is structurally affected in patients with punctal agenesis. Retrograde approaches for epiphora resolution are not logical in such cases but conjunctivodacryocystorhinostomy with Jones tube can be a feasible option.

Caruncle and plica hypertrophy causing mechanical secondary acquired lacrimal duct obstruction: - SALDO update study (SUP) - paper I.

PURPOSE: To exclusively report the clinical category of mechanical secondary acquired lacrimal duct obstruction (SALDO) secondary to the caruncle and plica hypertrophy. METHODS: Prospective interventional case series involving 10 consecutive eyes with megalocaruncle and plica hypertrophy were enrolled in the study. All patients presented with epiphora secondary to a demonstratable mechanical obstruction of the puncta. All patients underwent high magnification slit-lamp photography and Fourier-domain ocular coherence tomography scans (FD-OCT) of the tear meniscus height (TMH) pre- and post-operatively at 1-month and 3-months. Caruncle and plica size, position, and their relationship to the puncta were noted. All patients underwent partial carunculectomy. Primary outcome measures were demonstrable resolution of the mechanical obstruction of the puncta and the reduction in the tear meniscus height. The secondary outcome measure was the subjective improvement of the epiphora. RESULTS: The mean age of the patients was 67 years (range: 63-72 years). The average TMH was 843.1 (range: 345-2049) microns pre-operatively and 195.1(91-379) microns at 1-month follow-up. All patients reported significant subjective improvement in epiphora at 6-months follow-up. One patient had bilateral granuloma at the surgical site at two weeks and was managed by simple excision and topical tapering steroids. Histopathology revealed hyperplastic epithelium with goblet cells with chronic inflammatory cells in the sub-epithelial region and the stroma. CONCLUSION: The role of the caruncle in the causation of mechanical SALDO needs to be carefully assessed in patients beyond the sixth decade. Excellent objective and subjective outcomes can be achieved by a partial carunculectomy and plica semilunaris excision.

Clinical and Optical Coherence Tomography Correlation of Recurrence Patterns After Femtosecond Laser-Assisted Anterior Lamellar Keratoplasty in Reis-Bucklers Corneal Dystrophy.

PURPOSE: The aim of this study was to report the clinical profile and patterns of recurrence after femtosecond laser-assisted anterior lamellar keratoplasty (FALK) in Reis-Bucklers corneal dystrophy. METHODS: This is a case series of 5 eyes of 4 patients with Reis-Bucklers corneal dystrophy. Clinical images of recurrence were correlated with the high-resolution optical coherence tomography. Histopathologic examination of excised corneal samples was performed when possible. RESULTS: The median time to recurrence was 2 (1-5) years after FALK. Of the 5 eyes, 1 eye had primary FALK, whereas 4 eyes had secondary interventions, which included previous phototherapeutic keratectomy (once in 1 eye and twice in 2 eyes), and previous penetrating keratoplasty, followed by phototherapeutic keratectomy (1 eye). Recurrence was noted at the level of the subepithelium. In addition, 1 eye showed interface deposits along with epithelial downgrowth at the graft-host bed. CONCLUSIONS: The 2 distinct patterns of recurrence noted were at the subepithelial region and the interface. The clinical patterns of recurrence favor an epithelial origin of recurrent deposits.

Metastatic retinoblastoma at presentation: Clinical presentation, treatment, and outcomes.

The aim of this study was to retrospectively determine clinical features, treatment outcomes, and overall survival in four patients with metastatic retinoblastoma at presentation. The mean age at diagnosis was 63 months (range: 24-108 months). Three patients had overt orbital disease of at least one eye and one patient had microscopic orbital disease with scleral infiltration on histopathology. Metastatic sites included regional lymph nodes (RLN) (n = 4), bone marrow (BM) (n = 2), and cerebrospinal fluid (CSF) (n = 1). The most common sites of RLN were ipsilateral preauricular nodes (two patients) and contralateral parotid gland involvement (one patient). The treatment administered included primary enucleation (n = 1), high-dose intravenous chemotherapy (n = 4), secondary enucleation (n = 2), orbital external beam radiotherapy (n = 3), and intrathecal chemotherapy (n = 1). High-risk features included massive choroidal and microscopic scleral infiltration in the eye that underwent primary enucleation. At a mean follow-up of 33 months (range, 4-68 months), one patient with CSF involvement deceased in 4 months. The remaining three patients were alive and disease-free at the last mean follow-up period of 43 months (range, 18-68 months). The results of our study showed that RLN and BM metastasis respond well to treatment while CSF metastasis is associated with poor prognosis.

Microbial keratitis in lattice corneal dystrophy: microsporidia as a new cause.

A patient in his sixth decade presented to us with redness, pain and a deterioration of vision in his left eye. He had previously been diagnosed with lattice corneal dystrophy (LCD). He was diagnosed with microbial keratitis, and mixed infection was confirmed on culture (bacteria and fungus) with a protracted healing period before resolution of keratitis. He presented 2 years later with similar issues in the same eye and was noted to have a second episode of microbial keratitis, with microsporidia spores noted on gram, potassium hydroxide and calcofluor white stains. He was diagnosed with microsporidial stromal keratitis and underwent therapeutic penetrating keratoplasty. Unfortunately, he suffered a recurrence of microsporidial keratitis following surgery with eventual transplant failure. Microsporidia as an infection in LCD has, to our knowledge, not been previously reported. We aim to discuss microsporidial infection and recurrent microbial keratitis in the setting of LCD.

Band-shaped keratopathy in HNF4A-related Fanconi syndrome: a case report and review of the literature.

BACKGROUND: Fanconi's syndrome (FS) is characterized by type-2 renal tubular acidosis, short stature, and renal rickets, along with glycosuria, aminoaciduria, hypophosphaturia, and urinary bicarbonate wasting. The genetic form of FS has been linked to HNF4A variants. Although additional clinical features such as hearing impairment have recently been associated with HNF4A-linked FS, its ocular manifestation has not been described. MATERIAL AND METHODS: Presenting a case of a 5-year-old male child with bilateral progressive corneal opacification and the presence of bilateral greyish-white deposits in the interpalpebral region since infancy. A next-generation sequencing (NGS)-based genetic testing was performed for the child followed by parental genetic testing for the identified variant. Furthermore, relevant works of literature were reviewed related to this condition. RESULTS: Detailed corneal findings showed a bilateral band-shaped keratopathy (BSK) in the patient. Physical and systemic findings showed signs consistent with FS. Sequencing analysis revealed a novel heterozygous c.635C>T, (p.Pro212Leu) variant in the HNF4A gene in the proband and mother, while the father had a normal genotype. CONCLUSIONS: Our case highlights the occurrence of BSK in an exceptionally rare manifestation of hereditary FS linked to HNF4A gene variant. The variant exists both in proband and asymptomatic mother. Therefore, the variable penetrance which is known to exist in HNF4A is acknowledged in this context. This report suggests the first documented instance establishing a plausible connection between BSK and HNF4A-associated FS, characterized by the variable penetrance attributed to the HNF4A gene.

A Novel and Low-cost Approach for Intravitreal Injection in an Experimental Model of Endophthalmitis.

Purpose: Animal models are necessary in understanding the pathogenesis of endophthalmitis and are also necessary to assist the development of new therapeutics for this sight-threatening ocular inflammation. Hamilton syringes are usually preferred to inject pathogens when performing experiments on test subjects, however, this method has technical and financial disadvantages. In this study, we report the findings and assess the related benefits of applying a novel low-cost intravitreal injection technique to initiate endophthalmitis in a mouse model while using the Eppendorf tip and a 26G needle. Methods: The 18-hr culture of clinical isolates of bacteria (Staphylococcus aureus and Pseudomonas aeruginosa) and fungus (Aspergillus flavus and Candida albicans) were resuspended to a final concentration of 10,000 colony forming units (CFU)/1 µL which were separately injected intravitreally into C57BL/6 mice (6-8 weeks) using a 0.1-2.5µL pipette attached to the modified Eppendorf tip with a 26G needle. The contralateral eye served as vehicle/uninjected control. Disease progression was determined by assessing the corneal haze, opacity, bacterial burden, and retinal histology of the eyes used in the model. Following euthanization, bacteria-infected mice were enucleated after 24 hr of the initial injection, and fungus-infected mice after 72 hr. Results: Of the 50 mice injected, the modified technique was successful in 48 mice. Two mice were excluded due to cataract formed by accidental injury to the lens. The experimental endophthalmitis mice model successfully mimicked the natural clinical course. Clinical assessment and histopathology confirmed the influx of inflammatory cells into the posterior segment of the eye along with dissolution of retinal architecture. Conclusion: Our novel method of injection using a modified Eppendorf tip and 26G needle yielded a cost-effective mouse model of clinical endophthalmitis, resulting in reproducible infection for understanding various aspects of its pathobiology.

Identifying Treatment Resistance Related Pathways by Analyzing Serum Extracellular Vesicles of Patients With Resistant Versus Regressed Retinoblastoma.

Purpose: To identify the genes and pathways responsible for treatment resistance (TR) in retinoblastoma (RB) by analyzing serum small extracellular vesicles (sEVs) of patients with TR active RB (TR-RB) and completely regressed RB (CR-RB). Methods: Serum-derived sEVs were characterized by transmission electron microscopy and nanoparticle tracking analysis. sEV transcriptome profiles of two TR-RB and one CR-RB with good response (>20 years tumor free) were compared to their age-matched controls (n = 3). Gene expression data were analyzed by the R Bioconductor package. The CD9 protein and mRNA expression of CD9, CD63, and CD81 were studied in five RB tumors and two control retinae by immunohistochemistry and quantitative reverse transcription-polymerase chain reaction. Results: The isolated serum sEVs were round shaped and within the expected size (30-150 nm), and they had zeta potentials ranging from -10.8 to 15.9 mV. The mean ± SD concentrations of sEVs for two adults and four children were 1.1 × 1012 ± 0.1 and 5.8 × 1011 ± 1.7 particles/mL. Based on log2 fold change of ±2 and P < 0.05 criteria, there were 492 dysregulated genes in TR-RB and 184 in CR-RB. KAT2B, VWA1, CX3CL1, MLYCD, NR2F2, USP46-AS1, miR6724-4, and LINC01257 genes were specifically dysregulated in TR-RB. Negative regulation of apoptotic signaling, cell growth, and proton transport genes were greater than fivefold expressed only in TR-RB. CD9, CD63, and CD81 mRNA levels were high in RB tumors versus control retina, with increased and variable CD9 immunoreactivity in the invasive areas of the tumor. Conclusions: Serum sEVs could serve as a potential liquid biopsy source for understanding TR mechanisms in RB.

Sequelae of carbide-related thermo-chemical injury: A retrospective analysis.

Purpose: To describe the outcomes of eyes with calcium carbide (CaC2)-related thermo-chemical injury. Methods: This study included 28 eyes of 23 patients who presented with calcium carbide-related ocular burns. Only patients with more than three months of follow-up were included. Group A included 16 eyes with Dua's Grade I-III burns, while Group B included 12 eyes with Grade IV-VI burns. Electronic medical records were reviewed to provide data on the etiology of burn, presenting clinical signs and visual acuity, sequelae, and surgical interventions performed, both in the acute and chronic phases. Results: The overall mean age was 28.48 ± 11.8 years. Fifteen patients were injured while using carbide to create an explosion to scare away animals on farms. The median presenting BCVA (best-corrected visual acuity) in Group A (20/160) was significantly better than in Group B [(20/2000) (P = 0.002)]. Five eyes in Group A and one eye in Group B underwent medical management. There was no difference in the duration of follow-up for both groups (P = 0.24). The median final BCVA in Group A (20/32) was significantly better than in Group B [(20/200) (P = 0.02)]. Two eyes in Group A and nine eyes in Group B developed LSCD. Two eyes in Group B were phthisical at the last visit. Conclusion: Calcium carbide-related ocular injuries can result in significant visual morbidity in young adults. Early presentation and management may improve outcomes. Prevention of these injuries by increasing awareness and increasing advocacy efforts is necessary.

Anterior segment optical coherence tomography and ultrasound biomicroscopy in the diagnosis of subconjunctival mycosis mimicking nodular scleritis.

A female patient in her 20s presented with a bulbar conjunctival mass lesion that was diagnosed as nodular scleritis. It was treated with topical and oral steroids in another hospital. Imaging was done using anterior segment optical coherence tomography and ultrasound biomicroscopy, which helped to rule out scleritis and subconjunctival cysticercosis. Histopathology of the excision biopsy specimen revealed fungal filaments. Topical antifungals were started, and the condition resolved without recurrence after therapy. Although rare, infections should be considered in the differential diagnosis of conjunctival mass lesions. Imaging can help to rule out other entities and guide towards appropriate management.

Atypical presentation of punctal keratin cyst: an underdiagnosed entity.

Punctal keratin cyst (PKC) is a rare disorder believed to be due to ectasia of the vertical canaliculus. The etiopathogenesis of this disorder is very poorly understood due to the paucity of literature. To the best of authors' knowledge, only two cases of punctal keratin cyst have been described earlier, which presented as cystic lesions. The authors report four cases of punctal keratin cyst which differ in clinical presentation and also describe the anterior segment ocular tomography features, which aids in recognition and diagnosis of this rare disorder. The key message of the article is that lack of a defined cyst on clinical examination and optical coherence tomography (OCT) cannot rule out the presence of a PKC. A combination of clinical, radiology, and histopathology are confirmative of the diagnosis. Once diagnosed, the subsequent outcomes with membranotomy and keratin curettage are excellent.

Oral mucous membrane grafting for unilateral lid margin keratinization following radiotherapy.

We describe the outcomes of oral mucous membrane grafting as a surgical technique for unilateral lid margin keratinization following radiotherapy. A 47-year- old woman presented with an 8-month history of a white spot in her right eye. She had a history of adenoid cystic carcinoma of the right spheno-ethmoid sinus, for which she underwent radiotherapy. Slit-lamp evaluation revealed lid margin keratinization of the right upper and lower eyelids and a keratin plaque on the corneal surface. We performed excision of the keratin plaque and lid margin keratinization, followed by oral mucous membrane grafting of the upper and lower eyelid margins. Histopathological evaluation of the excised lid margin revealed keratinized stratified squamous epithelium, consistent with lid margin keratinization. The corneal surface and lid margins showed no recurrent keratin deposition at the final follow-up, 11 months postoperatively.

Ocular surface squamous neoplasia with orbital tumour extension: risk factors and outcomes.

PURPOSE: To describe the risk factors, clinical features, histopathology, treatment, and outcomes of patients with orbital tumour extension of ocular surface squamous neoplasia (OSSN). METHODS: Retrospective study of 51 patients with orbital tumour extension (cases) and 360 patients without orbital extension (controls). RESULTS: Of 1,653 patients with OSSN, orbital tumour extension was noted in 51 (3%) cases. The risk factors for orbital tumour extension included outdoor occupation (p < 0.03; Odds ratio (OR) = 1.96), Human Immunodeficiency Virus (HIV) infection (p < 0.0001; OR = 5.81), prolonged duration of symptoms (p = 0.01; OR = 1.02), tumour bilaterality (p = 0.02; OR = 2.92), forniceal and tarsal conjunctival involvement, diffuse tumour (p < 0.0001; OR = 9.13), inferior quadrantic location (p < 0.0001; OR = 7.51), increased tumour thickness (p = 0.04; OR = 1.59), higher % of ocular surface involvement (p = 0.002; OR = 1.12), nodular (p = 0.002; OR = 2.61) and nodulo-ulcerative (p < 0.0001; OR = 11.05) tumour morphology, poorly differentiated tumours (p = 0.006; OR = 4.23); invasive squamous cell carcinoma (SCC) (p < 0.0001; OR = 29.76), spindle cell and mucoepidermoid variant (p = 0.02; OR = 16.94) tumours. At a mean follow-up period of 27 months, tumour recurrence in the socket was noted in 1 (2%), locoregional lymph node metastasis (LNM) in 15 (29%) patients, and nine (18%) patients died due to systemic metastasis (SM). T4 tumour at presentation was a risk factor for LNM (p = 0.01; Hazard ratio (HR) = 5.60) and SM (p = 0.0003; HR = 5.09). CONCLUSION: Orbital extension of OSSN is rare. Outdoor occupation, HIV infection, larger and thicker tumours in the inferior quadrant with forniceal and/or tarsal conjunctival involvement with nodular or noduloulcerative morphology, poor tumour differentiation, SCC, spindle cell and mucoepidermoid variants on histopathology are at increased risk for orbital tumour extension.

Ambulatory Minimally Invasive Endoscopic Combined Intrarenal Surgery in Management of Large Impacted Proximal Ureteral Calculi: A Feasibility Study at a Tertiary Referral Center.

Aim: To conduct a comparative, nonrandomized study to assess the feasibility of mini-Endoscopic Combined Intrarenal Surgery (ECIRS) using supine Mini-percutaneous nephrolithotomy (PCNL) access (16F) in Galdakao-Modified Supine Valdivia position for managing proximal large-volume impacted ureteral calculi as ambulatory day-care surgery vis-a-vis standalone ureteroscopy (URS) with push-back PCNL, if needed. The primary aim was to study the outcomes and stone-free rates (SFRs). Secondary aim was to compare the intraoperative and short-term postoperative complications. Materials and Methods: Data of 60 patients undergoing ECIRS (Group 1) from January 2016 to December 2019 were collected prospectively in a nonrandomized fashion from a single center after Ethics Committee approval. A matched-paired analysis was performed with retrospectively collated data of 60 patients undergoing standard URS/pushback PCNL (Group 2) using analysis of variance, Fisher's exact test, and Chi-square test. p < 0.05 was considered statistically significant. Outcomes and Results: Group 1 patients had a significantly shorter procedure time vs Group 2 (42.1 ± 11.2 minutes vs 52.1 ± 13.7 minutes; p < 0.001). Group 1 (59/60) patients had an overall single stage SFR of 98.3%, which was significantly higher than single-stage SFR of 83% in Group 2 (50/60) (p < 0.002). Group 2 patients had a higher incidence of fever (10 vs 4, p = 0.01). However, there were no cases of sepsis in either group. Rest of the complications were comparable for both, as the need for ancillary procedures was significantly higher in Group 2 (10% vs 1.7%, p < 0.001). Patients were discharged on the same day in both groups. Conclusions: The findings of our study suggest that, in large and impacted proximal ureteric stones, combined minimally invasive endoscopic approach offers the best option to render the patient stone free by a single intervention. With better intra- and postoperative outcomes and safety profile, Mini-ECIRS may be considered as an ambulatory procedure in this setting.

Case Report: Poor Outcome Despite Aggressive Management in Pythium insidiosum Endophthalmitis.

Pythium insidiosum is a parasitic oomycete that can cause keratitis and closely resembles fungus, both clinically and morphologically. It requires a trained microbiologist for its differentiation from fungal filaments and has poor response to antifungal therapy. We present a case of primary isolation of the organism from the vitreous cavity in a case of endophthalmitis. The infection spread quickly and involved all the ocular tissues. The eye had poor visual outcome despite a sequence of rapidly completed retinal and corneal surgeries along with initiation of anti-Pythium therapy.

Microbiology Profile of COVID-19-Associated Rhino-Orbital Mucormycosis Pathogens in South India.

This study describes the microbiological and histopathological features of patients with COVID-19-associated rhino-orbital mucormycosis (ROM) seen at the L V Prasad Eye Institute between May and August 2021. Diagnosed clinically and radiologically, 24 patients with ROM were included in the study. Deep nasal swabs or endoscopically collected nasal swabs or orbital tissues were submitted for microbiological evaluation and in vitro susceptibility testing by microbroth dilution for natamycin, amphotericin B, caspofungin, posaconazole, ketoconazole, and voriconazole. Cultures were processed by 28S ribosomal DNA polymerase chain reaction and molecular sequencing. A portion of orbital tissues was also sent for histopathological evaluation. The age of the patients ranged from 27 to 75 (mean 48.58 ± 14.09) years and the majority (79%) were male. Nineteen patients were known to be diabetic prior to developing ROM and 18 patients had recovered from active COVID-19 infection. Thirteen patients had a history of hospitalization during COVID-19 infection and eight received steroids. Of the 24 samples, microbiological evaluation identified Rhizopus arrhizus in 12, Rhizopus microsporus in 9, Lichtheimia ramosa in 2, and Rhizopus delemar in 1. Twelve isolates were tested for antifungal susceptibility and all were susceptible to natamycin and amphotericin B. The susceptibility to posaconazole was high, with minimum inhibitory concentration (MIC) < 2 µg/mL for 10/12 (84%) isolates, whereas the MIC of other drugs varied. Histopathological examination of tissues showed acute fulminant disease, granuloma formation, and vascular invasion by the fungal pathogens in these specimens. Rhizopus arrhizus was predominantly associated with ROM and most isolates were susceptible to amphotericin B and posaconazole. Further studies are needed to corroborate the findings and explain possible underlying links.

Updates on congenital hereditary endothelial dystrophy.

Congenital hereditary endothelial dystrophy (CHED) is a rare genetic corneal disorder causing progressive cornea clouding and significant visual impairment. CHED remains a leading indication for pediatric corneal transplantation despite its infrequency, particularly in regions with high consanguinity rates like Southeast Asia. Identifying the Solute Carrier Family 4 Member 11 (SLC4A11) gene as the genetic basis of CHED has led to the discovery of it's various genetic variations. However, a comprehensive understanding of its clinical-genetic correlation, pathophysiology, and optimal management is ongoing. This review aims to consolidate current knowledge about CHED, covering its genetic origins, pathophysiological mechanisms, clinical presentation, and management strategies. Surgical intervention, such as penetrating keratoplasty (PK), Descemet stripping automated endothelial keratoplasty (DSAEK), and Descemet membrane endothelial keratoplasty (DMEK), remains the primary treatment. DSAEK and DMEK offer advantages over PK, including quicker visual recovery, reduced complications, and longer graft survival, especially in the pediatric age group. The timing of surgical interventions depends on disease severity, age at presentation, comorbidities, and visual potential. Elevated oxidative stress in CHED corneal tissue suggests potential benefits from anti-inflammatory drugs to rescue mutated endothelial cells. Considering the limitations of corneal graft surgeries, exploring novel gene-based molecular therapies are essential for future management. Early diagnosis, appropriate surgical interventions, amblyopia control, and genetic counseling for predictive analysis are pivotal for optimizing CHED management. A multidisciplinary approach involving ophthalmologists, researchers, and genetic counselors is essential for precise diagnosis and optimal care for CHED patients.