Case Reports in Ophthalmology最新文献

Introduction: This case report details a pseudotumoral lesion of the lacrimal sac, serving as the initial manifestation of seronegative IgG4 disease.

Case presentation: A 36-year-old female, without notable medical history, presented with a swelling located near the inner canthus and lacrimal crest associated with pain and skin redness. Despite two rounds of antibiotics, there was no improvement. Initially diagnosed as chronic dacryocystitis, antibiotic therapy with amoxicillin clavulanate was continued, and an orbital MRI was conducted for further evaluation. The MRI revealed a fibrous tissue process adjacent to the lacrimal sac, raising suspicion of malignancy. A biopsy under general anesthesia was performed due to a strong suspicion of squamous cell carcinoma of the sac. Biopsy revealed lymphoplasmacytic infiltration and storiform fibrosis, meeting ACR/EULAR criteria for IgG4 disease. Internal medicine evaluation found no extralacrimal organ involvement, and serum IgG levels were normal. Diagnostic criteria, including clinical presentation, imaging review, histological features, and exclusion criteria, confirmed IgG4 disease and ruled out malignancy. Systemic corticosteroid therapy resulted in rapid clinical improvement, supporting the diagnosis.

Conclusion: This case underscores the diagnostic challenges of IgG4 disease, emphasizing the importance of a comprehensive approach, including histological confirmation. Distinguishing it from malignancies is crucial, and biopsy should be considered in cases of diagnostic uncertainty before invasive or systemic treatments for suspected tumors.

Introduction: This article presents the results of a prospective pilot study on circulating tumor DNA (ctDNA) monitoring in uveal melanoma (UM) patients, along with a systematic review of the literature to support and contextualize the findings. We investigated the clinical utility of ctDNA variant allele frequency (VAF) for early detection of tumor progression.

Case presentations: We performed serial ctDNA testing using the Ion AmpliSeq Cancer Hotspot Panel v2 and Ion Proton™ sequencing in 3 UM patients (two recurrent, one nonrecurrent) at four time points over 2 years. A systematic review of studies up to June 2024 was also conducted, identifying 32 additional UM patients. In recurrent patients, co-occurring mutations in GNAQ, GNAS, and IDH1 were identified at the time of recurrence, with minimum VAFs of 0.51%, 0.25%, and 0.1%, respectively. In the nonrecurrent patient, pathogenic variants were absent, and VAFs of key genes declined over time. The systematic review supported the association of ctDNA alterations with recurrence and metastasis, identifying critical genes including GNAQ/11, GNAS, IDH1, STK11, FGFR2, and EGFR, many of which interact with the BAP1 signaling pathway.

Conclusion: Serial ctDNA analysis may serve as a noninvasive tool for early detection of recurrence in UM. Co-occurrence of GNAQ, GNAS, and IDH1 mutations may represent a molecular signature of recurrence. Further validation in larger cohorts is needed to define optimal gene panels and VAF thresholds for clinical use.

Introduction: The aim of this study was to report an unusual case of a presumed paraneoplastic syndrome associated with Hodgkin lymphoma (HL).

Case presentation: An otherwise healthy 18-year-old male patient presented with progressive bilateral visual loss over a 2-month period. Fundus examination revealed multiple yellow-whitish lesions in both eyes, resembling multifocal choroiditis. Over time, the patient developed subretinal fibrosis and a palpable cervical lymph node, which was biopsied, confirming the diagnosis of HL.

Conclusion: Ocular involvement in HL is exceedingly rare and may manifest with a wide range of signs and symptoms. Paraneoplastic inflammatory syndromes should be considered by ophthalmologists in patients with atypical bilateral posterior uveitis.

Introduction: Herein, we report a case of recurrent and metastatic sebaceous gland carcinoma (SGC) following orbital exenteration, which was managed with S-1 administration.

Case presentation: The patient was a 78-year-old man. At the initial examination, the extension of SGC into the right orbit was noted, for which radiotherapy, instead of orbital exenteration, was administered as per patient preference. However, after 2 years, the tumor enlarged, necessitating right orbital exenteration. Six months after the procedure, recurrence with orbital apex involvement, invasion into the supraorbital wall, and metastasis to the right cervical lymph nodes were observed. Therefore, resection of the supraorbital wall and temporalis muscle skin valve and dissection of the right cervical lymph nodes were performed. Seven months later, positron emission tomography/computed tomography revealed intraorbital recurrence, right submandibular gland metastasis, and lung metastasis. Accordingly, S-1 treatment was initiated, following which the intraorbital lesions and metastases disappeared; the patient remained in remission over 1 year later.

Conclusion: Our findings suggest that S-1 treatment may be effective in the management of refractory SGC.

Introduction: Basal cell adenoma (BCA) is a rare benign tumor of the salivary gland, reported to account for 1-3% of all salivary gland tumors, and is the third most common benign salivary gland tumor after pleomorphic adenoma (PA) and Warthin's tumor. We present the first case of a primary BCA of the lacrimal gland, an extremely rare condition, which is very similar in clinical presentation to PA of the lacrimal gland tumor.

Case presentation: An 18-year-old male patient experienced mild right proptosis for 3 years, without diplopia or pain. Orbital CT showed partial bone erosion, and MRI showed a 16 × 18 × 25 mm lobulated, well-defined mass. Anterior orbitotomy was performed to totally remove the entire lacrimal gland tumor along with its surrounding periosteum. Histopathological exams revealed a biphasic pattern of solid and cribriform, with no evidence of perineural invasion, vascular invasion, or invasion of surrounding tissues. The cell membrane and many nuclei of the tumor cells were positive for β-catenin.

Conclusion: BCA is a very rare tumor of the lacrimal gland, but complete resection is the effective treatment. Postoperative follow-up is necessary due to the possibility of malignant transformation.

Introduction: The extraction of intraocular foreign bodies (IOFBs) presents a significant challenge in ocular surgery. This report introduces a novel magnetic foreign body extractor, specifically designed for the removal of small- to medium-sized magnetic IOFBs located in the posterior segment of the eye.

Case presentations: Our report presents 2 cases of IOFB removal using a novel magnetic foreign body extractor, performed in conjunction with pars plana vitrectomy (PPV). The IOFBs were successfully removed through corneal or limbal incisions with a 23-gauge rechargeable magnetic foreign body extractor, without the need to enlarge the scleral incision. All procedures were completed independently, without the use of additional instruments, resulting in no instances of iatrogenic retinal injury, vitreous incarceration, or postoperative proliferative vitreoretinopathy. Furthermore, both patients showed significant visual improvement, with best-corrected visual acuity improving from counting fingers preoperatively to 0.6 and 0.7 at the 1-month follow-up.

Conclusion: The magnetizable intraocular magnetic foreign body extractor, in combination with minimally invasive vitrectomy techniques, offers a safe and effective solution for the removal of magnetic IOFBs in the posterior segment of the eye. This approach not only enhances visual acuity but also reduces the risk of postoperative complications, highlighting its potential as a valuable tool in ocular trauma management.

Introduction: Biallelic pathogenic variants in the ABCA4 gene are the leading cause of inherited retinal diseases. Over 1,200 pathogenic or likely pathogenic ABCA4 variants have been reported, resulting in a broad clinical spectrum of ABCA4-retinal dystrophies (ABCA4-RD), with Stargardt disease being the most common. Most patients with ABCA4-RD are compound heterozygotes, carrying two pathogenic ABCA4 variants in trans.

Case presentation: We report 2 unrelated patients with early-onset (≤12 years) Stargardt disease, both found to be homozygous for a complex ABCA4 allele containing the hypomorphic c.5882G>A p.(Gly1961Glu) variant and the c.634C>T p.(Arg212Cys) variant. Both patients underwent detailed clinical assessment and genetic screening, including whole exome or genome sequencing. In vitro assays were performed to assess the individual and combined effect of these variants on the ABCA4 protein. The identified ABCA4 variants were expressed in HEK293FT and HeLa cells to assess their protein expression levels and intracellular localization compared to the wild type (WT) ABCA4 protein. Molecular analysis revealed that the Arg212Cys variant and the doubly mutated allele showed similarly reduced protein expression, while Gly1961Glu expressed close to WT level. Both variants, individually and combined, localized to intracellular vesicles similarly to WT ABCA4.

Conclusion: This study highlights the genetic complexity of ABCA4-RD and the significance of pathogenic variants in cis. It also emphasizes the challenge of accurately predicting the functional consequences of specific ABCA4 alleles with in vitro assays.

Introduction: Differentiating non-glaucomatous and glaucomatous etiologies of optic neuropathy clinically can be challenging. We describe a patient with glaucoma and a concurrent planum sphenoidale meningioma to highlight the importance of fundoscopic examination and ancillary diagnostic tests. Despite thinning of the retinal nerve fiber layers (RNFL), tumor resection led to encouraging improvement in postoperative visual field (VF) testing. This suggests that the presence of reasonably preserved nerve fiber layers is a prognostic factor for visual field recovery following neurosurgical intervention in cases involving the chiasmal region.

Case presentation: A 73-year-old female presented with a 1-year history of headaches, intermittent ocular pain, blurred vision, and gradual loss of peripheral vision in her left eye. Initial evaluation revealed normal intraocular pressure and asymmetric cupping of 0.6 and 0.4 in the right and left eyes, respectively. While normal tension glaucoma was a possible diagnosis, her bilateral optic nerve head pallor, thinning of the RNFL, and VF defects that did not match the cupping raise suspicion of an intracranial lesion. Magnetic resonance imaging (MRI) and histopathology confirmed a large planum sphenoidale meningioma, which was surgically resected. Postoperative recovery showed drastically improved VF and resolution of symptoms, though visual acuity remained suboptimal.

Conclusion: Surgical resection of a large tumor size, as seen in our patient, can still result in visual field improvement despite suboptimal recovery of visual acuity. This case highlights the importance of considering intracranial tumors in the differential diagnosis to prevent long-term visual impairment.

Introduction: The term "acute zonal occult outer retinopathy (AZOOR) complex" encompasses a group of conditions associated with photoreceptor damage, and most patients with AZOOR complex experience irreversible visual-field defects and retinal pigment epithelium atrophy with no effective treatment. Herein, we report two cases of AZOOR complex in which multimodal imaging, including color scanning laser ophthalmoscopy (SLO) and en face optical coherence tomography (OCT) angiography (OCTA), facilitated diagnosis and monitoring.

Case presentation: Case 1 involved a 23-year-old woman who presented with visual-field disturbances in the left eye. The OCT B-scan revealed ellipsoid zone (EZ) irregularities, and color SLO and en face OCTA of the EZ slab showed corresponding hyporeflective areas in the green channel and hypointense regions, respectively. Case 2 involved a 38-year-old woman with decreased visual acuity in the left eye. Imaging findings were similar to those in case 1, and color SLO and en face OCTA revealed abnormalities corresponding to the EZ disruption. In both cases, follow-up imaging revealed improvement in EZ integrity and corresponding changes in color SLO and OCTA findings.

Conclusion: Multimodal imaging using color SLO and en face OCTA provide valuable information regarding the extent and progression of photoreceptor damage in AZOOR complex, which supplement the conventional OCT B-scan findings. These modalities may enhance the diagnostic accuracy and monitoring of patients with AZOOR complex.

Introduction: Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder that primarily affects young men, leading to subacute, painless, bilateral loss of central vision. It is caused by point mutations in mitochondrial DNA, especially those involving the MT-ND1, MT-ND4, and MT-ND6 genes, which disrupt complex I function in the mitochondrial respiratory chain.

Case presentation: We describe an 18-year-old male cricket player who presented with a 6-month history of gradually worsening, painless visual loss in both eyes. His best corrected visual acuity was 6/60 in the right eye and 3/60 in the left eye. Color vision was reduced in the left eye but improved when tested with a red filter, raising suspicion of optic nerve pathology. Fundus examination revealed subtle hyperemic optic discs, and visual field testing identified central and paracentral scotomas. MRI of the orbits showed bilateral T2 hyperintensities in the intraorbital portions of the optic nerves. Genetic testing confirmed a homoplasmic MT:14484C>T mutation in the MT-ND6 gene. The patient also reported systemic symptoms including palpitations and excessive sweating. Cardiac evaluation revealed mitral valve prolapse, sinus tachycardia, and elevated blood pressure. These findings led to a diagnosis of Leber's hereditary optic neuropathy plus (LHON plus). He was started on coenzyme Q10 and oral nutritional supplements. Remarkably, over the course of a year, he regained full visual acuity with only residual optic disc pallor.

Conclusion: This case underscores the importance of considering LHON plus in young patients with bilateral optic neuropathy and systemic features, particularly when the MT:14484C>T mutation is present, as early mitochondrial support can lead to favorable outcomes.