Case Reports in Ophthalmology最新文献

[This corrects the article DOI: 10.1159/000546007.].

Introduction: Orbital emphysema is characterized by presence of air in the soft tissues of the orbits. In severe cases, this can lead to orbital compartment syndrome, a medical emergency that can result in severe permanent vision loss without urgent intervention. Generally, the severity of presenting vision loss and longer time to intervention have been associated with worse visual outcome.

Case presentation: We present the case of a 26-year-old healthy male who developed an acute orbital compartment syndrome with orbital emphysema following nose blowing in the setting of a bacterial orbital cellulitis. Once documented to have no light perception (NLP) vision in the affected eye, he was urgently taken to the operating room for surgical drainage (approximately 2.5 h after onset of the NLP). Over the subsequent days, he gradually regained 20/20 visual acuity.

Conclusion: This case highlights that despite complete loss of vision, this patient had an excellent visual outcome.

Introduction: Idiopathic giant retinal cyst (IGRC) is a rare entity that may mimic a range of retinal or choroidal lesions. Accurate diagnosis and tailored surgical management are essential to achieve anatomical and functional outcomes.

Case presentation: We present the case of a 27-year-old female with decreased vision in the left eye due to a large intraretinal cyst. Multimodal imaging including optical coherence tomography, fluorescein angiography, and B-scan ultrasonography confirmed an intraretinal macrocyst. The patient underwent pars plana vitrectomy with retinotomy and cyst resection. Despite multiple reoperations for recurrent detachment, final best-corrected visual acuity stabilized at 2/50.

Conclusion: IGRC is an uncommon condition. Surgical management, including cyst resection and vitrectomy, may restore anatomy, although functional prognosis is limited in chronic cases with macular involvement. Multimodal imaging plays a crucial role in differentiating IGRC from other mimicking entities.

Introduction: Tuberculosis (TB) can affect the eye through direct infection or immune mechanisms. While ocular TB most often presents as uveitis or scleritis, episcleritis is an uncommon manifestation and can be mistaken for an idiopathic or autoimmune disease.

Case presentations: A 17-year-old female patient presented at our hospital with recurrent episcleritis. The first two flare-ups were mild and responded well to conservative treatment; therefore, no further investigation was pursued at the time. However, during the third episode, routine baseline workup revealed a mildly elevated erythrocyte sedimentation rate with a normal chest radiograph (CXR). Given recurrence and a presumed immune-mediated process, she received topical steroids and low-dose methotrexate. Weeks later, she began experiencing fever and a persistent cough. On repeat CXR showed new left upper-lobe changes prompting computed tomography that revealed cavitary lesions. Bronchoalveolar lavage confirmed Mycobacterium tuberculosis. She was promptly switched to standard anti-tubercular therapy showing systemic improvement, and without exhibiting additional episcleritis episodes.

Conclusion: In TB-endemic settings, recurrent episcleritis warrants evaluation for TB before initiating or escalating immunosuppression. New systemic symptoms should prompt repeat chest imaging and microbiologic testing.

Introduction: To report a case of anterior chamber migration of the dexamethasone intravitreal implant (DEX-I) through a new type of scleral fixated lens, the Carlevale^® intraocular lens (IOL) (Cutting Edge, Italy).

Case presentation: A 74-year-old pseudophakic man with a history of macular edema (ME) secondary to retinal vein occlusion had been receiving DEX-I injections every 4 months for 10 years. During follow-up, he spontaneously presented an IOL luxation into the vitreous cavity, treated surgically with explantation and Carlevale^® IOL implantation. One month after this surgery, an injection of DEX-I was performed, due to recurrence of the ME. Seven days after, the patient presented DEX-I migration into the anterior chamber along with corneal edema, requiring implant removal. After aspiration through a 20-gauge catheter connected to a syringe corneal edema decreased in 7 days allowing an improvement in visual acuity.

Conclusion: Migration of the DEX-I into the anterior chamber remains a potential complication in vitrectomized eyes with capsular defects, even with the use of scleral-fixated IOLs such as the Carlevale^®, which features a large optic. This highlights the importance of careful patient selection and postoperative monitoring in such cases.

Introduction: Hypotony is a potentially vision-threatening condition that may persist despite conservative management, often necessitating surgical or interventional treatment. We present a case where a minimally invasive injection of 100% sulfur hexafluoride (SF6) into the anterior chamber (AC) successfully reversed refractory hypotony secondary to ciliary body shut-down.

Case presentation: A 72-year-old male with advanced pseudoexfoliation glaucoma and a nonfunctioning trabeculectomy presented with hypotony, decreased vision, a deep AC, and 360° serous choroidal effusions. After excluding other etiologies, ciliary body shutdown was presumed. Conventional measures, including topical steroids, cycloplegia, and AC viscoelastic injection, failed to restore intraocular pressure (IOP). Given the refractory course, 100% SF6 gas was injected into the AC. Within 24 h, a reverse pupillary block developed, leading to a rapid IOP increase. The gas fully reabsorbed within weeks, with resolution of the choroidal effusions and normalization of IOP. At 6 months, the patient maintained stable IOP and visual acuity without further intervention.

Conclusion: This case highlights the potential of SF6 gas injection as a minimally invasive and effective treatment for refractory hypotony, even when the underlying mechanism is not over-filtration.

Introduction: In this study, we report a case of an acquired fixed vitreous cyst associated with a pigmented epiretinal membrane (ERM) that developed approximately 10 years after vitrectomy for vitreous hemorrhage (VH) secondary to branch retinal vein occlusion (BRVO).

Case presentation: This study involved an 85-year-old male who had previously undergone a vitrectomy in November 2014 for a VH caused by BRVO. The patient's postoperative recovery was favorable; however, at a follow-up visit in January 2023, a pigmented ERM was observed, along with an adjacent cyst approximately one-third optic disc diameter. Initially, the lesion presented as cystoid macular edema (CME) with multiple cystoid spaces, one of which that had gradually enlarged and eventually formed into a pigmented vitreous cyst of approximately two optic disc diameters in size by January 2025. The cyst was surgically excised, and histological analysis revealed that the cyst wall demonstrated a bilayered structure; i.e., the outer layer consisting of retinal pigment epithelial (RPE), while the inner layer being composed of glial lineage cells.

Conclusion: Based on our findings, we hypothesize that the wall of a cystoid space in CME formed a protrusion from the retina into the vitreous cavity, which subsequently developed into a vitreous cyst through migration and proliferation of reactive Müller cells and RPE cells due to structural compromise of the retina.

Introduction: Leber hereditary optic neuropathy (LHON) is a hereditary optic neuropathy mainly caused by mutations at 1,178, 14,484, and 3,460 in mitochondrial DNA. Patients with LHON have a higher risk of developing multiple sclerosis (MS), a coexistence also known as Harding's syndrome. A growing body of evidence shows that other mitochondrial and non-mitochondrial mutations can lead to LHON and Harding's syndrome. Herein, we report a novel mutation in MT-RNR2 resulting in LHON.

Case presentation: A 35-year-old woman with bilateral painless optic neuropathy presented to neuro-ophthalmology clinic. Her blood work-up did not reveal any nutritional deficiencies, and she did not respond to steroid therapy. Genetic test revealed a m.1737A>G mutation in MT-RNR2 gene with 99.9% penetrance; therefore, she was diagnosed with LHON.

Conclusion: MT-RNR2 gene mutation was the possible cause for LHON in this patient. Herein, we describe a novel mutation and associated clinical features. This case report also underscores the importance of considering LHON as a differential diagnosis for optic neuritis, even in a patient with an established MS.

Introduction: Scleral rupture during intraocular surgery is a rare but serious complication, most often associated with prior buckling, scleritis, trauma, or high myopia. We report a unique case of scleral penetration by a cryoprobe during primary buckling surgery for traumatic rhegmatogenous retinal detachment (RRD).

Case presentation: A 59-year-old man developed localized RRD 9 days after sustaining blunt ocular trauma from a baseball. During surgery, an area of scleral thinning was noted between the lateral and superior rectus muscles. While performing cryocoagulation for the causative retinal tear, the tip of the cryoprobe penetrated the sclera, resulting in a 4-mm L-shaped rupture beneath the superior rectus muscle. The rupture was successfully repaired with sutures, a silicone sponge, and intravitreal SF6 injection, followed by additional pars plana vitrectomy and photocoagulation for persistent subretinal fluid. Six months postoperatively, the retina remained attached without proliferative vitreoretinopathy, and visual acuity improved to better than 20/20.

Conclusion: This case illustrated that blunt ocular trauma can cause occult scleral fragility, even without preoperative signs, emphasizing the need for meticulous intraoperative assessment to avoid rare iatrogenic complications.

Introduction: Fish-eye disease (FED) is a rare autosomal recessive disorder caused by a partial deficiency of lecithin-cholesterol acyltransferase (LCAT) activity. It is characterized by progressive corneal opacification and dyslipidemia in the absence of systemic manifestations. We describe the clinical presentation, optical coherence tomography (OCT) imaging findings, and Scheimpflug-based corneal densitometry results in a patient with FED carrying both a pathogenic variant and a novel missense variant of the LCAT gene not reported in the current literature.

Case presentation: We present a rare case of a 25-year-old female with bilateral corneal opacities, reduced plasma high-density lipoprotein cholesterol (<5 mg/dL), and elevated low-density lipoprotein cholesterol levels (>133 mg/dL). Visual acuity remained 20/20 in both eyes. Slit-lamp examination revealed diffuse subepithelial and anterior stromal deposits. The central corneal thickness was thinner than normal on Scheimpflug tomography, measuring 419 µm OD and 409 µm OS. OCT findings confirmed stromal thinning (479 µm OD and 470 µm OS), with preserved central epithelial thickness, and demonstrated corneal opacities throughout the cornea. Mean densitometry across the 12-mm corneal diameter was more than double that reported in healthy corneas. The cholesteryl ester-to-total cholesterol ratio remained within the normal range. Genetic analysis identified a previously reported pathogenic variant in exon 4 of LCAT (c.440C>T, p.Thr147Ile) and a novel missense mutation in exon 5 (c.715G>A, p.Gly239Ser), classified as a variant of uncertain significance.

Conclusion: FED is a rare genetic disorder that is associated with corneal clouding and dyslipidemia. Genetic analysis confirmed the diagnosis with a compound heterozygous genotype, while OCT and corneal densitometry were effective modalities for quantifying and characterizing lipid deposits in FED.