Case Reports in Ophthalmology最新文献

Introduction: Orbital metastasis is an uncommon but clinically significant manifestation of breast carcinoma and typically presents as a discrete orbital mass. Inflammatory orbital metastasis without a mass is exceptionally uncommon and can be misdiagnosed due to overlap with other orbital inflammatory conditions. This case highlights an exclusively inflammatory orbital metastasis 2 years after bilateral breast cancer treatment, underscoring the need for careful evaluation of orbital inflammation in patients with a cancer history.

Case presentation: A 51-year-old African-American woman with a history of bilateral ductal breast carcinomas treated with bilateral mastectomy and adjuvant therapy 2 years prior, presented with progressive right upper and lower eyelid swelling. Examination revealed bilateral symmetric anatomic exophthalmos, right-sided chemosis, and right soft periorbital edema. Neuroimaging demonstrated orbital fat stranding and lateral rectus enlargement without a discrete mass. Laboratory findings were largely unremarkable. She received high-dose corticosteroids with partial response and symptoms recurred upon tapering. Orbital biopsy of the lateral rectus and adjacent fat confirmed metastatic breast carcinoma. Systemic therapy with ribociclib and fulvestrant, coupled with orbital radiotherapy, led to marked clinical and radiographic response.

Conclusion: A review of published literature highlights the rarity of inflammatory presentations of orbital metastases from breast carcinoma, particularly in the absence of a mass, which can lead to delayed diagnosis due to overlapping symptoms with other orbital pathologies. This case illustrates the importance of maintaining a high index of suspicion for metastatic disease in patients with a history of breast cancer presenting with orbital inflammation, even years after remission. Early biopsy in atypical or steroid-refractory cases is critical to ensuring timely diagnosis and management.

Introduction: Invasive fungal rhino-orbital sinusitis is a rare and life-threatening condition that occurs in immunosuppressed patients. This article aimed to describe the case of a patient with bilateral orbital mucormycosis treated with right orbital exenteration and transcutaneous retrobulbar amphotericin B (AMPB) in the left orbit.

Case presentation: A 61-year-old diabetic woman, immunosuppressed due to treatment with immunotherapy for breast cancer and systemic corticosteroid for sarcoidosis, was admitted to our hospital with complaints of severe headache, fever, and complete right visual loss. Imaging exams demonstrated an invasive pansinusitis with right orbital apex involvement, extension to frontal cerebral space and an inflammatory swelling in the medial aspect of the left orbit with extra-conal extension. These findings corroborated the diagnosis of rhino-orbital mucormycosis with intracranial extension. Initial treatment included systemic antifungal therapy and necrotic tissue debridement, both encephalic and sinonasal. Since there was a complete right orbital apex and optic nerve involvement, she was treated with right orbital exenteration. The left eye presented good visual acuity (8/10 Snellen chart) and no signs of afferent or efferent pathway involvement. Regarding the left orbital soft tissue involvement, this patient was proposed to transcutaneous retrobulbar injections of 1 mL of 3.5 mg/mL of AMPB. She received a total of 6 injections, with clinical stability and radiographic signs of improvement regarding the left orbital involvement of the infection.

Conclusion: Transcutaneous retrobulbar injection of AMPB seems to be a valid approach for specific cases of rhinosinus mucormycosis with orbital invasion, allowing for orbital preservation without compromising patient survival.

Introduction: Coats disease is a rare, nonhereditary retinal disorder, and early detection and treatment are crucial for preserving visual function. This case report details a pediatric case where Coats disease was diagnosed during follow-up for amblyopia.

Case presentation: An 8-year-old boy with a history of bilateral hyperopic amblyopia and right congenital ptosis underwent eyeglass and occlusion therapy starting at age 2. By age 4, he had achieved good visual acuity. At a routine follow-up 4 years later, fundus examination revealed exudative lesions in the left macula. Optical coherence tomography (OCT) showed macular hyperreflective lesions and the thickened choroid in his left eye, leading to a diagnosis of Coats disease. The patient was treated with retinal photocoagulation. Ten months after treatment, his visual acuity remained stable, and a follow-up OCT showed a reduction in the hyperreflective lesions in the outer macular layers.

Conclusion: Routine dilated fundus examinations and OCT-based retro-choroidal morphology for anisometropic amblyopia facilitated early detection and timely intervention for Coats disease, which lacks overt symptoms in its early stages. This case highlights the importance of retinal monitoring in amblyopic eyes to preserve visual function.

Introduction: Autosomal dominant optic atrophy (DOA) is an inherited optic neuropathy characterized by progressive bilateral vision loss, cecocentral visual field (VF) defects, and retinal ganglion cell degeneration. Most cases are associated with OPA1 mutations, while OPA3-related DOA is rare and typically involves both eyes. To date, unilateral disease has not been reported.

Case presentation: A 33-year-old man presented with progressive, painless vision loss in the left eye. Best corrected visual acuity was 20/20 in the right eye and 20/30 in the left, with a left relative afferent pupillary defect and optic disc pallor. Optical coherence tomography revealed normal retinal nerve fiber layer thickness in the right eye and diffuse thinning in the left; VF testing showed a central scotoma in the left eye. MRI excluded compressive or inflammatory causes. Genetic testing identified a novel heterozygous OPA3 missense variant, c.199G>C, p.Val67Leu, not previously reported in population databases. Four years later, vision in the left eye had declined to 20/100 with persistent unilateral atrophy, while the right eye remained normal.

Conclusion: This represents the first documented case of unilateral OPA3-related DOA, challenging the long-held view that DOA is inherently bilateral. Recognition of such atypical presentations may expand the clinical spectrum of OPA3-related disease and inform diagnostic and genetic counseling approaches for patients with unilateral optic neuropathy.

Introduction: Neuromyelitis optica spectrum disorder (NMOSD) is a relapsing autoimmune demyelinating disease, characterized by severe attacks of optic neuritis and transverse myelitis. Distinguishing true relapses from infection-related pseudo-exacerbations is essential, particularly in immunosuppressed patients where clinical presentations may be atypical.

Case presentation: An 83-year-old woman with AQP4-IgG-positive NMOSD and Parkinson's disease presented with acute visual loss and altered mental status, initially suspected to represent a relapse. Empirical intravenous corticosteroids were administered, but her condition worsened with new hallucinations. Magnetic resonance imaging revealed no new demyelinating lesions. Urinalysis and culture confirmed a urinary tract infection due to Klebsiella oxytoca. Corticosteroids were discontinued, and antibiotic therapy initiated, leading to resolution of mental status changes and a return to baseline vision. Follow-up neuro-ophthalmic examination confirmed stability without new inflammatory activity.

Conclusion: Urinary tract infection can masquerade as an NMOSD exacerbation, complicating diagnosis in elderly immunosuppressed patients.

Introduction: Lecithin-cholesterol acyltransferase (LCAT) deficiency is a rare autosomal recessive disorder of lipid metabolism characterized by corneal opacification, hemolytic anemia, and chronic kidney disease. We describe the ophthalmic, systemic, and genetic findings of a patient with LCAT deficiency and report a novel frameshift mutation in the LCAT gene.

Case presentation: Ophthalmic findings may represent the first clinical sign and guide the diagnosis. A 50-year-old white male with end-stage renal disease on hemodialysis and a history of recurrent hemolytic anemia was referred for bilateral corneal opacities. Despite diffuse opacification involving all corneal layers, his best corrected visual acuity remained 20/20 in both eyes with normal color vision, although contrast sensitivity was reduced. Laboratory testing revealed normocytic, normochromic anemia, low HDL cholesterol, and reduced apolipoprotein A levels. Genetic analysis identified compound heterozygosity in the LCAT gene: a novel frameshift variant c.580_598del p.(Ala194Serfs*64), classified as likely pathogenic, and the previously described missense variant c.619G>A p.(Gly207Ser), also classified as likely pathogenic.

Conclusion: This case highlights the importance of considering metabolic disorders in the differential diagnosis of bilateral corneal opacities and expands the genetic spectrum of LCAT deficiency by reporting a novel frameshift mutation.

Introduction: Pediatric optic nerve sheath meningiomas (ONSMs) are rare and have an aggressive presentation often resulting in rapid vision decline. Here, we report a case of a right cavernous sinus meningioma (CSM) with a delayed diagnosis of concomitant bilateral ONSMs, ultimately leading to permanent bilateral blindness.

Case presentation: A 7-year-old boy with a history of a right trochlear nerve palsy and amblyopia presented with worsening right eye vision. An MRI revealed a right CSM that was resected; however, the patient experienced a progressive visual acuity decline from 20/60 right eye and 20/40 left eye to light perception right eye and 20/400 left eye, along with bilateral optic atrophy appreciated on optical coherence tomography. Repeat evaluation of the brain MRIs revealed bilateral ONSMs characterized by a tram-track appearance. The visual acuity remained unimproved 3 years after optic canal decompression with optic nerve sheath fenestration followed by proton beam radiation.

Conclusion: Pediatric ONSM is rare, with a high risk of permanent blindness in children. Intracranial meningioma and unexplained painless vision loss should prompt a careful evaluation of orbital neuroimaging for this condition.

Introduction: IgA nephropathy (IgAN) (Berger's disease) is a primary glomerulonephritis characterized by mesangial deposition of IgA immune complexes. While it commonly presents with microscopic or gross hematuria, ocular findings as the initial manifestation are rare. Malignant hypertension, a severe complication of renal parenchymal disease, can lead to vision-threatening ocular changes such as optic disc edema, macular edema, and hypertensive choroidopathy. Early ophthalmic recognition can therefore play a pivotal role in uncovering the underlying systemic disorder.

Case presentation: A 19-year-old female presented with diminution of vision in both eyes, along with swelling and subconjunctival hemorrhage of the right eye for a period of 2 months. Ophthalmic examination revealed bilateral optic disc edema, macular edema, multiple dot-blot and flame-shaped hemorrhages, widespread soft exudates, and a temporal choroidal detachment in the right eye, suggestive of hypertensive retinopathy and choroidopathy. Systemic evaluation revealed severe hypertension (200/130 mm Hg) and laboratory findings of proteinuria, microscopic hematuria, and elevated serum creatinine. Renal biopsy confirmed IgAN with mesangial IgA deposition. The patient was started on antihypertensive and immunosuppressive therapy. On follow-up, the right eye developed a macular star pattern with visual improvement.

Conclusion: This case highlights a rare primary presentation of IgAN manifesting initially with ocular findings secondary to malignant hypertension. Fundus examination served as a critical diagnostic clue, leading to early identification of renal disease. Prompt multidisciplinary management is essential to prevent irreversible visual loss and systemic complications.

Introduction: Stickler syndromes are multisystem connective tissue disorders characterised by a range of ocular and systemic features, including an increased risk of early-onset glaucoma. This report describes two paediatric patients initially assessed before the age of one who were ultimately diagnosed with both Stickler syndrome and infantile-onset glaucoma. Despite different genotypes, both shared similar phenotypes, most notably a strikingly unilateral glaucoma presentation.

Case presentations: Both patients presented with unilateral ocular hypertension and buphthalmus, followed by surgery for craniofacial abnormalities. Multiple surgical interventions were required to achieve intraocular pressure control and both developed comorbidities including hearing loss and cataract. These cases underscore the complex interplay between systemic features of Stickler syndrome and the challenges of managing paediatric glaucoma, particularly in advanced cases with ocular enlargement.

Conclusion: The cases highlight the considerable burden placed on families and healthcare systems due to the frequent need for surgeries, examinations under anaesthesia, and prolonged follow-up. Clinicians should consider Stickler syndrome in the differential diagnosis of early-onset glaucoma, even in the absence of overt systemic signs. Early recognition may offer a crucial opportunity to optimise visual outcomes and provide appropriate support for affected children and their caregivers. Families should also be counselled regarding the risk and early signs of glaucoma.

Introduction: The aims of the study were to report a rare case of isolated idiopathic inferior rectus (IR) palsy in a young adult and discuss its clinical features, diagnostic workup, and surgical management.

Case presentation: A 31-year-old male presented with a 3-month history of vertical diplopia and right hypertropia. Comprehensive ophthalmic and systemic evaluations, including imaging and laboratory tests, were conducted. Examinations revealed right IR underaction with a 30 prism diopter hypertropia in primary gaze. Forced duction testing was negative. Imaging and laboratory investigations were unremarkable. The patient underwent an 8-mm ipsilateral superior rectus (SR) recession. Postoperatively, orthotropia was achieved with resolution of diplopia.

Conclusions: Isolated idiopathic IR palsy is exceedingly rare. Thorough evaluation is essential to exclude secondary causes. Ipsilateral SR recession can provide excellent functional and cosmetic outcomes in patients with persistent hypertropia and diplopia.