Retinal Cases and Brief Reports最新文献

Purpose: The authors describe a case of relentless placoid chorioretinitis that was responsive to intravitreal triamcinolone and systemic adalimumab, but suboptimally responsive to oral prednisone.

Methods: : This is an interventional case report.

Results: A 23-year-old woman presented with macular placoid chorioretinitis in the left eye and visual acuity of finger counting at 3 feet. Despite a 2-week course of 60 mg oral prednisone, the choroiditis expanded dramatically in the midperiphery. She was admitted to the hospital for high-dose IV corticosteroids, which stopped the progression of disease. After discharge, the patient was started on adalimumab and restarted oral prednisone; however, on resumption of oral prednisone 60 mg, the disease started to progress again over the next 2 weeks. An intravitreal injection of triamcinolone (intravitreal triamcinolone) 2 mg was given, which halted the progression of the disease for at least 9 weeks, at which time it was believed that the adalimumab started to also have an effect. The visual acuity 9 weeks after intravitreal triamcinolone had improved to 20/20. The patient was lost to follow-up after this point.

Conclusion: This is a case of relentless placoid chorioretinitis that continued to progress despite high-dose oral corticosteroids, but which responded to intravitreal triamcinolone and systemic adalimumab. This indicates that intravitreal corticosteroids may represent an alternative treatment option to oral corticosteroids in the short-term management of macula-threatening noninfectious chorioretinitis, particularly in patients with a suboptimal response to oral corticosteroids.

Purpose: The aim of this study was to describe two cases of ocular ischemic syndrome (OIS) that were initially ruled out because of a negative carotid duplex ultrasound but eventually confirmed by angiography studies.

Methods: This is a case series.

Results: Case 1: A 67-year-old woman presented with symptoms suggestive of OIS, but carotid duplex ultrasound was negative, and the patient was diagnosed with occlusive retinal vasculitis due to retinal nonperfusion and vascular leakage on fluorescein angiography. Immunosuppressive therapy was initiated, but her symptoms did not improve. Computerized tomography angiography was significant for severe osteal stenosis of the aortic arch vessels. Left common carotid angioplasty and stenting resulted in complete resolution of the symptoms and vascular leakage of the left eye. Case 2: A 41-year-old man with cryoglobulinemia-associated vasculitis complained of symptoms consistent with OIS, which was initially ruled out through a negative carotid duplex ultrasound. Fluorescein angiography revealed delayed arterial filling with poor retinal perfusion. Magnetic resonance angiography revealed ophthalmic artery stenosis, which was attributed to the underlying systemic vasculitis.

Conclusion: Computerized tomography angiography or magnetic resonance angiography should be performed to rule out OIS if duplex ultrasound is negative in the setting of high clinical suspicion. Carotid ostial and ophthalmic artery stenoses are rare but possible causes of OIS.

Purpose: The objective of this study was to report multimodal imaging features of a novel MFSD8/CLN7 pathogenic variant associated with bilateral and symmetric nonsyndromic macular dystrophy.

Methods: A 63-year-old female patient presented complaining of a gradual subjective decline in VA in both eyes over the previous months. This patient underwent a comprehensive ophthalmological assessment, including multimodal retinal imaging and electrophysiological testing. Given suspicion for a hereditary retinal disorder, genetic testing was pursued.

Results: The eye examination revealed blunted foveal reflexes and no lesions or abnormalities in the equatorial or anterior retinal periphery. Multimodal imaging showed a bilateral and almost symmetrical subfoveal interruption of the outer retinal layers, including an optical gap. Genetic testing revealed that the MFSD8/CLN7 gene exhibited a homozygous variant, specifically p.Ala484Val (c.1451C>T). This variant was identified as the likely causative factor for the condition.

Conclusion: In this study, the authors describe the clinical findings of a previously unreported homozygous variant in the MFSD8/CLN7 gene, resulting in a nonsyndromic form of bilateral central macular dystrophy.

Background/purpose: The aim of this study is to describe a patient with delayed closure of a stage 3 full-thickness macular hole after pars plana vitrectomy.

Methods: This is a retrospective case report. Details of the case were obtained from the electronic patient record system, Medisoft.

Results: A 65-year-old man was referred with a left stage 3 full-thickness macular hole measuring 720 μ m and visual acuity of 6/36. He underwent phacovitrectomy, internal limiting membrane peel with an inverted internal limiting membrane flap, and C 3 F 8 gas tamponade. Seven weeks after surgery, the macular hole was smaller at 196 μ m but remained open. The patient was listed for repeat surgery; however, another 13 weeks later, the full-thickness macular hole demonstrated type 2 closure without further intervention.

Conclusion: Delayed macular hole closure after pars plana vitrectomy is rare. In cases where there has been a substantial decrease in the size of a full-thickness macular hole after surgery without full closure, a short period of observation to allow for further closure may be appropriate before reconsidering surgery.

Purpose: The aim of this study was to illustrate a patient with orbital compartment syndrome after scleral buckle placement that was successfully treated with canthotomy and cantholysis.

Methods: This is an observational case report.

Results: A 26-year-old man underwent a primary scleral buckle repair for a chronic rhegmatogenous retinal detachment. On postoperative day four, the patient presented to the emergency room with pain and increased intraocular pressure. Initial treatment with conservative intraocular pressure-lowering agents was unsuccessful. The patient was diagnosed with delayed orbital compartment syndrome and was successfully managed with lateral canthotomy and inferior cantholysis in addition to aggressive steroid and antibiotic medical management.

Conclusion: After scleral buckle placement with sub-Tenon anesthesia block, there may be a delayed presentation of orbital compartment syndrome. Recognition and management of this rare complication is important for preventing irreversible blindness.

Purpose: To describe a case of TUBA1A -associated optic nerve hypoplasia and persistent fetal vasculature.

Methods: Observational case report.

Results: A female, full-term infant was found to have a Dandy-Walker malformation with cerebellar and brainstem hypoplasia, ventriculomegaly, and lissencephaly. Her ophthalmic examination was notable for persistent fetal vasculature, optic nerve hypoplasia, vitreous hemorrhage, and peripheral retinal nonperfusion. Subsequent genetic testing revealed a TUBA1A genetic variant.

Conclusion: Persistent fetal vasculature, peripheral retinal vascular abnormalities, and optic nerve hypoplasia may be associated with TUBA1A variants. These patients should be carefully evaluated with dilated retinal examination and fluorescein angiography to detect retinal perfusion abnormalities requiring treatment.

Purpose: The authors report a case of acute macular neuroretinopathy (AMN) following and then exacerbated by mRNA COVID-19 booster vaccination.

Methods: Report of a case.

Results: A 79-year-old White man presented with a central scotoma in the right eye 2 weeks following administration of his second mRNA COVID-19 vaccination. Optical coherence tomography, fundus autofluorescence and color photography, fluorescein, indocynanine green, and clinical findings were consistent with a diagnosis of AMN. Anatomy and symptoms worsened 8 months later, approximately 2 weeks after the third mRNA COVID-19 vaccine. Improvement in symptoms and findings occurred without therapy 15 months postpresentation.

Conclusion: This post-COVID vaccine AMN case is reported following an mRNA vaccine. The chronological relationship to both vaccines, exacerbation after the third vaccine, and occurrence in an older man without the recognized risk factors of non-vaccine-related AMN are compelling for possible causality. Depending on the patient's health and the state of the COVID-19 pandemic with regard to public health, should AMN occur soon after COVID vaccination, clinicians may consider foregoing additional vaccination/boosters or switching to an alternate COVID vaccine vector.

Purpose: The aim of this study was to describe a patient who developed retinal degeneration associated with autoimmune retinopathy and who was also found to have anti-glutamic acid decarboxylase (GAD65) autoantibodies and the diagnosis of stiff-person syndrome.

Methods: Ophthalmologic workup consisted of clinical examination, multimodality retinal imaging, and electrophysiologic testing. Further neurologic assessment including relevant serum and cerebrospinal fluid studies was also conducted.

Results: We highlight the case of a 45-year-old patient who developed subacute, sequential vision loss, along with bilateral lower extremity weakness. On initial presentation, optical coherence tomography of the left eye was notable for diffuse attenuation of the outer retinal bands. Fundus autofluorescence demonstrated a ring of hyperautofluorescence encircling the fovea of the left eye. At 15-month follow-up, the right eye also became similarly affected. He was found to have elevated serum and cerebrospinal anti-GAD65 autoantibodies and was diagnosed with both stiff-person syndrome and autoimmune retinopathy.

Conclusion: There is a potential association of anti-GAD65 autoantibodies with the development of autoimmune retinopathy.

Purpose: The authors describe a case of Indeterminate cell histiocytosis, a rare disease of histiocytic proliferation on the spectrum of Langerhans cell histiocytosis.

Methods: Data were collected through retrospective chart review.

Results: The authors present a novel case of congenital Indeterminate cell histiocytosis with multisystem disease, including significant pan-ocular involvement. The neonate was successfully treated with the BRAF-kinase inhibitor dabrafenib, local anti-VEGF, and corticosteroid.

Conclusions: The present case expands on the current ocular presentations of Indeterminate cell histiocytosis.

Purpose: The aim of the study was to report a case of clinically diagnosed cancer-associated retinopathy successfully treated with intravitreal corticosteroid implants without systemic immunosuppression.

Methods: This was a case report with multimodal imaging.

Results: An 80-year-old man without known systemic malignancy presented with debilitating shimmering, hemeralopia, and rapidly progressive bilateral vision loss following uncomplicated cataract surgery. Mild vitritis, extensive photoreceptor loss, mottling of retinal pigment epithelium, and mild vascular attenuation were found in both eyes. Full-field electroretinogram showed severe bilateral rod-cone dysfunction. Infectious etiologies and vitreoretinal lymphoma were ruled out. During cancer workup, intravitreal corticosteroid treatment was offered. Significant anatomical improvement with reconstitution of the ellipsoid zone, improved retinal pigment epithelium irregularities, and functional improvement were observed 3 weeks after bilateral intravitreal dexamethasone implants (Ozurdex). After 2 months, the patient received bilateral intravitreal 0.18-mg fluocinolone acetonide implants (YUTIQ). Later, a colonic adenocarcinoma was found (pathologic stage pT3 pN0). The patient recovered well from surgery, and no chemotherapy was needed. Nine months since bilateral intravitreal fluocinolone acetonide implants (11 months since bilateral intravitreal dexamethasone implants), best-corrected vision maintained at 20/25-2 in the right eye and 20/20 in the left eye without ongoing treatments. Bilateral reconstitution of ellipsoid zones and near resolution of retinal pigment epithelium irregularities remained stable. Repeat full-field electroretinogram demonstrated improved cone response in the left eye and stable diminished rod response in both eyes. The patient reported resolution of ocular symptoms.

Conclusion: The sustained improvements with intravitreal corticosteroid monotherapy suggest potential advantages using local therapy over systemic treatment. A long-term follow-up is warranted. Further research is needed to evaluate the efficacy of using the 0.18-mg fluocinolone implant (YUTIQ) to treat cancer-associated retinopathy.