Case Reports in Ophthalmology最新文献

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.

Introduction: Eight-and-a-half syndrome is a rare neuro-ophthalmologic condition that is often caused by stroke and requires comprehensive ophthalmologic and neurologic management. Stem cell therapy has emerged as a novel and promising candidate approach for the treatment of stroke. This case highlights the potential of stem cell therapy in treating eight-and-a-half syndrome associated with ischemic stroke.

Case presentation: This report presents a 65-year-old male who has experienced double vision for 1 month before admission. Physical examination revealed slight esotropia, horizontal gaze palsy to the right side, incomplete adduction of the right eye, gaze-evoked nystagmus to the left side, and right-sided facial and limb weakness due to ischemic strokes. Visual field impairment was right inferior homonymous quadrantanopia. Based on these findings, the patient was diagnosed with one-and-a-half syndrome and facial nerve weakness, together forming the classic presentation of eight-and-a-half syndrome. He had two cerebrovascular events, only a week apart, and a background history of subsequent atrial fibrillation. MRI revealed left temporoparietal and pontine infarcts. Despite thrombolysis and thrombectomy, the symptoms persisted. He later received intravenous and intrathecal stem cell therapy, showing significant improvement in gaze palsy, visual field, and motor function within a month.

Conclusion: Stem cell therapy might be advantageous for patients with eight-and-a-half syndrome due to ischemic stroke in the subacute and chronic phases.

Introduction: Rosacea is an inflammatory skin condition that can present with varied ophthalmic manifestations. It is often overlooked by clinicians especially when unilateral in presentation leading to diagnostic delay and a resultant psychosocial impact. We aimed to present a unique case of ocular rosacea, highlighting the difficulty in therapeutic challenges and diagnoses in such rare cases.

Case presentation: A 64-year-old Caucasian man presented with a 9-month history of persistent painless swelling of the right upper eyelid and secondary ptosis. His ophthalmic examination, serology, and MRI were otherwise normal besides mild meibomian gland dysfunction. Punch biopsy results were inconsistent and initially led to a misdiagnosis of benign squamous papillomata and, later, a differential diagnosis of dermatomyositis. He was trialled on appropriate management for these conditions without any benefit. Repeat histopathology was suggestive of rosacea, and given the persistence of symptoms despite multiple treatments, he was successfully managed with a right upper lid debulking biopsy transcutaneous blepharoplasty. Histopathological analysis of the debulking biopsy confirmed the diagnosis of rosacea, with additional features indicative of lymphoedema. Upon follow-up, there was resolution of lid swelling.

Conclusion: Due to the non-specific nature of isolated ocular rosacea presentations, it can be easily misdiagnosed and, therefore, should always be considered as a differential diagnosis in persistent peri-orbital oedema. It can additionally pose significant therapeutic challenges for ophthalmologists, underscoring the importance of improving our understanding of ocular rosacea. Further, we have shown the effectiveness of surgical debulking in its management.

Introduction: Thyroid eye disease (TED) is a known complication of Graves' disease, but severe presentations with bilateral corneal melting ulcers are rare. Simultaneous substance use disorder might make the disease management more challenging.

Case presentation: Herein, we present a 29-year-old man with a history of Graves' disease who, despite prior hospitalization for milder symptoms, experienced a deterioration of his condition, leading to bilateral corneal melting ulcers. He was treated with fortified ophthalmic antibiotic drops, and methimazole dosage was increased. Intravenous methylprednisolone and mycophenolate mofetil were also started. Urgent orbital decompression on medial and inferior walls, canthotomy/cantholysis, and medial and lateral tarsorrhaphy were performed, followed by conjunctival flap placement and bilateral total blepharorrhaphy. Despite comprehensive treatment, the patient exhibited a poor therapeutic response and ultimately retained only light perception in both eyes.

Conclusion: The patient's complex medical history including homelessness and substance abuse complicated both diagnosis and management. This case highlights the challenges in treating severe TED and underscores the importance of timely intervention and patient compliance.

Introduction: We present the unique case of a pediatric patient who underwent intra-arterial melphalan chemotherapy and subsequently developed choroidal neovascularization.

Case presentation: A 6-year-old male with a history of nonhereditary unilateral group D retinoblastoma treated with intra-arterial melphalan, cryotherapy, and diode laser consolidative therapy presented to establish care. Initial evaluation revealed a regressed retinoblastoma lesion with chorioretinal scars and calcification scattered in the midperiphery. Notably, the macula was largely within normal limits without evidence of prior malignancy or scarring. However, 7 months after establishing care, imaging was significant for intraretinal fluid, subretinal fluid, and subfoveal fibrosis of the treated eye, suggestive of choroidal neovascularization. The patient was managed with anti-VEGF therapy with resolution of subretinal fluid and improved visual acuity.

Conclusion: This case represents the first description and management of a patient developing choroidal neovascularization after receiving intra-arterial melphalan treatment for retinoblastoma. Careful monitoring of patients following intra-arterial melphalan chemotherapy treatment is critical due to the potential for vision loss, including choroidal neovascularization, which may be an under-reported complication.

Introduction: Panophthalmitis is a severe ocular infection with significant morbidity, most commonly caused by Staphylococcus aureus or Streptococcus pneumoniae. Streptococcus dysgalactiae is a rare cause of panophthalmitis, and its involvement in concurrent systemic infections is exceedingly uncommon.

Case presentation: We report a case of S. dysgalactiae panophthalmitis in an elderly male patient, associated with bacteremia and septic arthritis. Despite early antimicrobial therapy, the infection progressed rapidly, ultimately requiring evisceration of the affected eye.

Conclusion: This case underscores the importance of early recognition, aggressive treatment, and systemic evaluation in patients with rapidly progressive ocular infections caused by atypical organisms.