Orbit-The International Journal on Orbital Disorders-Oculoplastic and Lacrimal Surgery最新文献

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive hematologic malignancy typically involving the skin, bone marrow, and central nervous system. Ocular adnexal involvement is exceedingly rare. We present a novel case of a 74-year-old man with BPDCN in remission following autologous stem cell transplantation who developed sequential ocular adnexal recurrences. He initially presented with a protuberant lesion of the right caruncle, followed by new lesions of the left lacrimal gland and right subconjunctival space. Histopathologic analysis confirmed BPDCN recurrence. Notably, these lesions developed despite ongoing systemic therapy and concurrent improvement of his skin disease. This case expands the known spectrum of extramedullary BPDCN and suggests that adnexal tissues may serve as sanctuary sites for disease relapse. Prompt ophthalmologic evaluation and biopsy of atypical findings in BPDCN patients is critical for early detection and management of recurrence.

Purpose: Congenital nasolacrimal duct obstruction (CNLDO) represents the predominant etiology of infantile epiphora. It frequently resolves spontaneously; but persists in approximately 5-6% of cases. The possible correlation between CNLDO and risk factors for amblyopia, including anisometropia, refractive errors, and strabismus, remains a subject of debate, which consequently affects the timing and selection of therapeutic interventions.

Methods: This systematic review adhered to the PRISMA2020 guidelines. Comprehensive search of PubMed, Scopus, Web of Science, and Google Scholar (1998-2024) was conducted to identify studies on coexistence of CNLDO and amblyopia risk factors. Eligible studies include original research articles and case series that reported on refractive errors, the amblyopia prevalence, or biometric parameters associated with CNLDO. Review articles, editorial pieces and papers not published in English were excluded from the analysis. A total of 24 studies met the inclusion criteria and were subjected to a qualitative synthesis.

Results: Findings across various studies exhibited significant heterogeneity. The reported CNLDO prevalence varied considerably, ranging from 2.6% to 33%, with anisometropia and hyperopia as the most common conditions. Although several investigations suggested a higher incidence of ARF and amblyopia in cases of unilateral or persistent CNLDO, other studies found no significant differences compared to the general population or age-matched controls. These discrepancies primarily arise from inconsistencies in ARF definitions (according to AAPOS 2003, 2013, 2021 guidelines), differences in patient age groups and the lack of adequately matched control groups. The proposed mechanisms underlying these findings include disrupted emmetropization resulting from chronic epiphora, orbital structural anomalies and eye-rubbing - induced astigmatism.

Conclusion: Evidence regarding the correlation between CNLDO and amblyopia remains inconclusive. Standardised ARF definitions, age-matched controls and biometric analyses are crucial for future studies to clarify this issue and improve treatment strategies.

Purpose: To review ophthalmic manifestations, histopathological features, and pathophysiology of primary hypertrophic osteoarthropathy (PHOA).

Methods: A comprehensive PubMed/Medline search was conducted to identify all articles reporting ophthalmic manifestations in PHOA. The authors highlight an additional case presenting with severe blepharoptosis, floppy and lax eyelids, and meibomian gland dysfunction (MGD).

Results: Twenty-six cases of PHOA with ophthalmic manifestations were evaluated. All cases were in males with a higher prevalence in Indians (23%), Hispanics (19%), and those of African descent (19%). The most common ocular manifestation was blepharoptosis (96%), followed by papillary conjunctivitis (46%), floppy eyelids (38%), eyelid imbrication (35%), enlarged tarsal plates (27%), lid laxity (23%), eyelid ectropion (23%), and meibomian gland dysfunction (15%). Histologically, sebaceous gland hyperplasia was most commonly described (72%), followed by inflammatory infiltrates (50%), tarsal plate fibrosis or thickening (44%), mucin deposition (28%), and alterations in elastin fibers (11%). The clinical histological features of PHOA are due to pathogenic elevation of PGE2 due to mutations in the HPGD and SLCO2A1 genes leading to upregulation of matrix metalloproteinase (MMP) and vascular endothelial growth factor (VEGF). In this review, two patients carried a homogenous mutation in the SLCO2A1 gene. Management is surgical, but tetracyclines in the peri-operative period can reduce tissue inflammation.

Conclusions: Hormonal, inflammatory, and mechanical factors related to prostaglandin-E2 overexpression, and its influence on various cytokines are at the center of disease pathogenesis in PHOA, manifesting with hypertrophic, lax, floppy eyelids. Further studies targeting disease specific cytokines, VEGF and MMP are needed to explore additional medical therapies.

The majority of pediatric skull fractures are minimally displaced and can usually be managed conservatively. A rare but serious complication is the development of a growing skull fracture (GSF), that may lead to significant sequelae including orbital meningoencephalocele or neurological impairments. We report a 6-year-old boy who initially presented with right-sided traumatic ptosis and a minimally displaced right orbital roof "blow-up" fracture following minor head trauma. This injury subsequently progressed into a growing orbital roof fracture, complicated by the development of an orbital meningoencephalocele and persistent ptosis seven months post-injury. Our case highlights the importance of early multidisciplinary evaluation and long-term follow-up in pediatric patients with orbital roof fractures, even when initial injuries appear minor. Clinicians should remain vigilant for rare but potentially serious complications, such as growing skull fractures and orbital meningoencephaloceles which can develop months after the initial trauma.

CHARGE syndrome is a rare multisystem disorder, with ocular colobomas being the most frequent ophthalmic manifestation. Lacrimal drainage system anomalies are distinctly uncommon, with only a handful of cases reported. We describe two children with CHARGE syndrome who presented with bilateral lower punctal agenesis and complex nasolacrimal duct obstruction (NLDO). The first patient had recurrent dacryocystitis and long-standing epiphora; examination revealed bilateral absence of the lower puncta, right NLDO, and partial stenosis of the left nasolacrimal duct. He underwent right external dacryocystorhinostomy and left lacrimal probing with bilateral monocanalicular stenting, resulting in resolution of infection and marked reduction of tearing. The second patient had bilateral bony obstruction; probing revealed a hard stop within the duct that prevented stent placement, and surgery was deferred. These cases expand the limited spectrum of lacrimal anomalies in CHARGE syndrome and highlight the importance of careful lacrimal evaluation and the potential role of CT imaging in guiding management.

A 71-year-old Caucasian female with a history of a right conjunctival intraepithelial neoplasia (CIN) presented with an expanding right lacrimal sac mass. Pathology from the lacrimal sac biopsy revealed invasive, moderately differentiated, non-keratinizing squamous cell carcinoma (SCC) that stained positive for p63 and p40 and negatively for CEA. The conjunctival and lacrimal sac masses were noncontiguous and found to be HPV-positive SCCs after definitive surgery. Whole exome sequencing demonstrated distinct, shared deletions and gains in both tumors, with the lacrimal sac SCC having more genetic mutations than the conjunctival tumor, suggesting that the lacrimal sac SCC evolved from the conjunctival SCC. The pathology and sequencing data show a shared genetic and histopathologic heritage between the conjunctival and lacrimal sac SCCs, suggesting the potential for conjunctival tumor cells to spread to the lacrimal sac in a non-contiguous manner.

Hypervirulent Klebsiella pneumoniae (hvKp) is a gram-negative bacillus capable of causing fulminant visual and systemic outcomes in otherwise stable individuals. Classically, it is associated with liver abscesses and diabetes mellitus/immunosuppression in South-East Asians. In most cases, hvKp encompasses the hypermucoviscous Klebsiella pneumoniae (hmvKp) phenotype with excess capsular material on "string test," but these terms are not synonymous. Typically, hvKp manifests as endogenous endophthalmitis without true intraorbital pathology. We present a rare case of hmvKp-driven scleral necrosis creating orbital abscess and orbital compartment syndrome. A 73-year-old Chinese female presented with six days' worsening red, painful right eye with preceding one month of gastrointestinal symptoms on a background of unmedicated diabetes mellitus. Right visual acuity was light perception, with intraocular pressure of 36 mmHg. Examination revealed severe globally reduced ocular motility, 3 mm right axial proptosis, 360-degree chemosis, and shallow anterior chamber with dense fibrin. B-scan showed vitritis with a positive T-sign. Vitreous and blood cultures confirmed hmvKp. On abdominal computed tomography, she had hepatic and renal abscesses. She showed no visual improvement with intravitreal ceftazidime/vancomycin. On day six of admission, she suddenly developed orbital compartment syndrome. Further imaging showed an orbital abscess secondary to scleral melt and orbital extrusion of intraocular contents and pus. She underwent drainage and enucleation; preserving contralateral vision and life. This case exemplifies hmvKp with the defining clinical features of hvKp. To our knowledge, this is a unique case of scleral melt with these devastating corollaries.