Seminars in Ophthalmology最新文献

Purpose: To evaluate the diagnostic performance of the endoscopic Jones (eJones) I and II tests in patients presenting with epiphora.

Methods: A retrospective review was conducted of patients assessed for epiphora in a tertiary oculoplastic unit. All patients underwent rigid nasal endoscopy, dacryocystography (DCG), and dacryoscintigraphy (DSG). Lacrimal drainage status was categorized as nasolacrimal duct obstruction (NLDO), nasolacrimal duct stenosis (NLDS), or functional epiphora based on imaging findings. eJones I and II test outcomes were compared across diagnostic groups.

Results: Thirty-five symptomatic eyes were included. Functional epiphora was identified in 17 eyes, NLDO in 13 eyes, NLDS in one eye, and four eyes demonstrated normal lacrimal systems. All eyes with NLDO or NLDS had negative eJones I results, while all symptomatic eyes with normal imaging findings had positive eJones I results. Eyes with functional epiphora showed mixed eJones I outcomes.

Conclusions: The eJones I test reliably confirmed anatomical obstruction but yielded variable results in cases of functional epiphora, highlighting the multifactorial mechanisms underlying this condition. Further studies are warranted to validate and refine the diagnostic utility of eJones testing.

Purpose: To assess the prognostic role of dual margins on fundus autofluorescence (AF) in predicting treatment outcomes in tubercular serpiginous-like choroiditis (TB SLC).

Design: Retrospective interventional study.

Methods: Patients with active TB SLC demonstrating dual hyperautofluorescent margins with an intervening hypoautofluorescent zone on baseline AF, positive laboratory evidence of tuberculosis, radiological evidence of active or healed TB, and ≥3 months follow-up were included. Each case was matched with three controls without dual margins. All patients received oral corticosteroids (prednisolone 1 mg/kg, tapered over 1-2 months) with concurrent antitubercular therapy. Primary outcomes were paradoxical worsening (PW), recurrence, and need for additional immunosuppression. Logistic regression was used to analyze risk factors for PW.

Results: Three hundred and sixty-six patients of active SLC were screened and twenty-one cases and 63 controls were evaluated. PW occurred significantly more often in the dual-margin group (47.6% vs. 14.3%, p = .002). Recurrence rates were comparable (9% vs. 6%, p = .63). Escalation of immunosuppression, including increased corticosteroid use or additional immunomodulatory therapy, was required more frequently in cases (47.6% vs. 20.6%, p = .01).

Conclusion: Dual AF margins may serve as an imaging biomarker of aggressive TB SLC and may predict higher risk of PW and greater immunosuppressive requirements. Early recognition may facilitate closer follow-up and timely therapeutic escalation.

Purpose: To investigate the pedigree-based penetrance analysis in Korean Leber hereditary optic neuropathy (LHON).

Methods: The pedigrees of 32 LHON patients' families were thoroughly examined. Index patients were probands diagnosed by mitochondrial DNA (mtDNA) mutation at the position of 11,778 or 11,484, while secondary cases were affected relatives ascertained through index cases. We identified susceptible and at-risk family members of the index patients. We categorized susceptible individuals as unaffected offsprings connected within the matrilineal lineage and at-risk individual as a susceptible individual under the age of 25. The penetrance rates for family members by their relationship with the index patients were analyzed. The differences in penetrance rates by degree of relationship and sex were also investigated.

Results: Among the 32 families, 29 (90.6%) had the 11,778 mutation, while 3 (9.4%) had the 14,484 mutation. The average penetrance rates were 37.1% for male and 10.2% for female. For Koreans, one previous study reported a ratio of 1.6:1, and in the present study, the ratio was found to be 2.3:1. The total number of individuals at risk was 24 (10 males and 14 females).

Conclusions: This study expands previous research by offering new information on the penetrance of LHON in the Korean population through pedigree analysis.

Purpose: Acute Exudative Polymorphous Vitelliform Maculopathy (AEPVM) is a rare retinal disorder characterized by serous subretinal detachments that progress to vitelliform lesions. In this review, we aim to summarize current knowledge of etiologies and treatments for AEPVM and its association with primary and recurrent melanoma.

Methods: We performed a comprehensive search of scientific literature for articles mentioning Acute Exudative Polymorphous Vitelliform Maculopathy including all literature published through March 2025 using the online electronic databases PubMed, MEDLINE, and Embase.

Results: We identified 81 cases (mean age 46 ± 16.9 years, 43.2% female) with etiologies including idiopathic (43), infectious (10), paraneoplastic (19), and medication-induced (9). Several successful treatments were identified. Local or systemic corticosteroids in 17 eyes improved subretinal fluid and vision in 100% of idiopathic, 50% of infectious, and 40% of medication-induced cases. In paraneoplastic AEPVM, fluid improved with immunotherapy (2 eyes), chemotherapy (2 eyes), intravitreal methotrexate (1 eye), and aflibercept (2 eyes). Notably, AEPVM was the initial symptom of primary or metastatic melanoma in 5 cases.

Conclusion: The variable response to treatment and the potential link between AEPVM and primary and recurrent melanoma highlights the need for further research. A thorough understanding of treatment options and outcomes is essential to optimize management and to encourage prompt recognition of metastatic melanoma or other conditions associated with AEPVM.