Case Report: Self-Resolved Macular Edema Secondary to Congenital Retinal Macrovessels

PurposeTo report a case of macular edema secondary to congenital retinal macrovessels (CRMs), which resolved spontaneously without any treatment.ObservationsA 39-year-old female presented with blurry vision of the right eye for one day. Fundus examination revealed a branch of artery and vein of the inferior retinal arcade crossing the horizontal raphe. Optical coherence tomography (OCT) through the fovea showed cystoid macular edema in the outer plexiform layer. However, no leakage of the vessels was noticed by fundus fluorescein angiography (FFA). Observation was recommended with close follow-up. Two weeks later, the patient returned with good visual acuity, and the macular edema was resolved spontaneously.ConclusionsMacular edema is a possible complication of CRM by increasing retinal capillary hydrostatic pressure. Treatment is not necessary for this kind of macular edema if no leakage of the vessels is noticed on FFA.

Bilateral Retinal Vasculitis in Association with Systemic Sclerosis sine Scleroderma. A case report and brief review of the literature.

Background: Systemic sclerosis sine scleroderma is a very rare subset characterized by the total or partial absence of cutaneous manifestations of systemic sclerosis with the occurrence of internal organ involvement and serologic abnormalities. The purpose of this article is to report a case showing a very rare association of bilateral retinal vasculitis (RV) and systemic sclerosis sine scleroderma (ssSSc). We show the description of a case report and revision of other medical histories, prospective and retrospective studies. Findings: A 40-year-old woman presented at our Hospital for blurry vision with her left eye (OS). Her best-corrected visual acuity was 20/20 in both eyes. Funduscopy examination showed bilateral occlusive vasculitis with proliferative retinopathy and vitreous hemorrhages. Retinography showed temporary sheathed and some occluded veins, surrounded by large number of retinal hemorrhages in both eyes. In fluorescein angiography were found areas of not perfused retina, also with telangiectasia and staining of retinal vessel’s walls. We found isolated microaneurysms in these ischemic areas. The ophthalmological treatment was confluent photocoagulation of the ischemic retina of both eyes, and vitrectomy of the right eye to treat his vitreous hemorrhage. The systemic treatment was corticosteroids and Adalimumab during two years; afterwards the stability was achieved. There was a lack of response to cyclosporine and azathioprine. The diagnosis comes years later after presenting: anticentromere antibodies, scleroderma pattern on capillaroscopy and esophageal manometry showing esophageal dysmotility with absent contractility.Conclusion: We report a rare association of RV and sclerosis sine scleroderma. RV can precede the development of ssSSc by several years.

A Case of Recurrent Bilateral Central Retinal Vein Occlusion in an Otherwise Healthy Adolescent Male

Introduction: Central retinal vein occlusion (CRVO) is a rare finding in children. Well-known risk factors include hypertension and diabetes in older patients. CRVO has also been attributed to local causes such as compression or inflammation secondary to trauma, as well as systemic causes, such as thrombophilia or hyperviscosity etiologies. Here, we describe a case of recurrent bilateral CRVO in an otherwise healthy child. Design/Methods: This is a retrospective case report reviewing a patient with recurrent bilateral CRVO. Ophthalmological and pediatric records were reviewed. Results: A 10-year-old previously healthy male presented with sudden onset blurry vision of his left eye and was found to have CRVO with venous engorgement of the retina. He had a grandfather with polycythemia vera, but no other contributing family history. Initial coagulopathy workup was normal with a PTT of 29 sec, PT INR of 1.1 sec, fibrinogen of 291 mg/dL, Factor VIII of 174%, Von Willebrand Factor Antigen of 139%, Von Willebrand Factor Activity of 132%, Factor IX of 101%, and Factor XI of 112%. Computed tomography (CT) of the head was unremarkable. At the age of 13, he developed acute onset headache with blurry vision of his right eye. He had evidence of macular edema and CRVO of his right eye. Ophthalmology treated him three injections of vascular endothelial growth factor inhibitor, aflibercept, over four months with improvement in both macular edema and visual acuity. Daily aspirin prophylaxis was also initiated pending further hypercoagulability workup. Laboratory investigation for an inherited or acquired hypercoagulability including prothrombin mutation, AT III mutation, hyperhomocysteinemia, protein C & S, and antiphospholipid were negative. He initially had a positive cryoglobulin found to be negative on repeat evaluation. He underwent a comprehensive rheumatological and infectious workup that was unrevealing. Additionally, he had an elevated RBC of 6.09 mill/cmm, hemoglobin of 18.2 g/dL, and hematocrit of 52.0% but a targeted panel for inherited erythrocytosis and polycythemia was normal. The patient remained symptomatic with persistent episodes of blurred vision and lightheadedness. Further extensive hematologic workup revealed reduced thrombin inhibitor and elevated rates of thrombin formation. Lipoprotein (a) was 168 mg/dL. Interestingly, his mother had elevated rates of thrombin formation and a lipoprotein (a) level of 153 mg/dL. The patient is currently being treated with therapeutic rivaroxaban and whole exome sequencing (WES) for the patient and both parents are pending. Conclusion: This case demonstrates a novel cause of recurrent bilateral CRVO secondary to reduced thrombin inhibition resulting in accelerated rates of thrombin formation and elevated lipoprotein (a) overall supporting a hypercoagulable state. Perhaps, there is a familial component predisposing recurrent thrombosis in this patient. Whole exome sequencing is pending to evaluate for a genetic predisposition to his findings. After completing a full course of therapeutic anticoagulation, he will likely require lifelong prophylaxis to reduce the risk of future thrombotic events and preserve his vision. Disclosures No relevant conflicts of interest to declare.

Endovascular biopsy of a sigmoid sinus lesion using a stent retriever and aspiration catheter

A teenager with a history of acute myeloid leukemia presented with headache, nausea and blurry vision over a 2 week period. The MRI of the brain was concerning for the presence of a myeloid sarcoma within the right sigmoid sinus. For evaluation of venous obstruction and the underlying lesion the patient underwent a cerebral angiogram and transvenous biopsy of the sigmoid sinus lesion using a stent retriever and aspiration catheter. The tissue extracted was consistent with myeloid sarcoma. This pathologic finding was consistent with the recurrence of leukemia and guided the targeted oncologic treatment.

A Case Report of Toxic Anterior Segment Syndrome, A Rare Complication After Laser in Situ Keratomileusis

Background: Laser in situ keratomileusis (LASIK) is increasingly used worldwide to correct a wide range of refractive errors. Toxic anterior segment syndrome (TASS), a noninfectious inflammatory disease with symptoms and signs that resemble bacterial infection, is a rare complication of LASIK. Case presentation: We report a case of TASS in a 42-year-old male patient after LASIK surgery in both eyes for hyperopia. Diagnosed clinically. Discussion and conclusion: Little information about complications after LASIK is available. TASS is a general term used to describe acute, sterile postoperative anterior segment reactions. Patients with TASS will often experience blurry vision with or without pain within 12 to 48 hours after surgery. Steroids have shown to be effective in resolving the inflammatory response, reducing the pain and recovering the vision.

Diagnostic retinal biopsy in the management of secondary non-CNS vitreoretinal lymphoma masquerading as viral retinitis: a case report

Background Intraocular lymphoma accounts for fewer than 1% of intraocular tumors. When the posterior segment is involved, it can be further classified as vitreoretinal or choroidal lymphoma. Vitreoretinal lymphoma (VRL) can rarely masquerade as an infectious retinitis making diagnosis and management challenging. Results A 73-year-old woman with a history of non-central nervous system (CNS) involving diffuse large B-cell lymphoma (DLBCL) was referred for worsening blurry vision—visual acuity of count figures at 2 ft—in her right eye for 8 months. Dilated fundus examination of the right eye was significant for retinal whitening and dot-blot hemorrhages, which was concerning for a viral retinitis and guided initial management. Secondary intraocular lymphoma was also considered. The retinal disease continued to progress despite intravitreal and systemic antiviral therapy, and a diagnostic vitrectomy was inconclusive. A retinal biopsy was then performed, which showed DLBCL, confirming a diagnosis of secondary VRL. Three subsequent treatments with intravitreal methotrexate led to regression of the VRL. Conclusions Our case highlights the utility of a retinal biopsy after an inconclusive diagnostic vitrectomy in a challenging scenario of VRL to establish a diagnosis and initiate successful treatment. A multidisciplinary team of providers was essential for diagnosis, comprehensive workup, medical and surgical management of the patient.

Correlations Between Visual Acuity, Presenting Symptoms and Histopathological Findings in Enucleated Eyes with Uveal Melanoma

Visual outcomes after treatment of uveal melanoma have been investigated repeatedly. In this paper, we evaluate the correlation between visual acuity (VA) prior to enucleation, presenting symptoms and findings upon histopathological examination of eyes and tumors. Sixty nine patients were included. Their mean best corrected visual acuity (BCVA) prior to enucleation was LogMAR 0.80 (SD 0.70). Patients that reported low VA or blurry vision did not have lower BCVA upon refraction (p=0.34). Patients with low BCVA had tumors with greater apical tumor thickness (p=0.027), basal diameter (p=0.012) and stage (p=0.014). The experience of a shadow in the visual field correlated with presence of vasculogenic mimicry in the tumor (p<0.001). In multivariate Cox regressions with tumor thickness and diameter as covariates, tumor cell type and infiltration of the optic nerve head were associated with increased hazard for melanoma-related mortality (3.2 and 3.6, respectively). We conclude that patients that report low VA do not necessarily have worse BCVA. The latter do however have tumors with larger dimensions, at more advanced stage. A shadow in the VF correlates with presence of vasculogenic mimicry, which is an independent predictor for poor prognosis along with tumor infiltration of the optic disc and tumor cell type.

PAX5 P80R mutated acute leukemia followed by genetically-related histiocytic proliferation with clonal IGH gene rearrangements

Introduction/Objective PAX5 is a transcription factor critical for B-cell development and its genetic alterations are common in B lymphoblastic leukemia/lymphoma (B-ALL). We report a case of PAX5 P80R mutated acute leukemia with predominantly monocytic immunophenotype followed by a genetically-related histiocytic proliferation. Methods/Case Report A 27-year-old male presented with pancytopenia, epistaxis, and blurry vision. Bone marrow exam showed 95% blasts with nuclear indentations, occasional prominent nucleoli and basophilic cytoplasm. Blasts were positive for bright CD33, HLA-DR, CD14, bright CD64, partial CD123 and partial CD19. In addition, a minute population of B lymphoblasts positive for CD19, CD20, and dim TdT was seen. The AML FISH panel showed markedly aneuploid population with all probes demonstrating 3 to 5 signals. PAX5 P80R and KRAS G13D mutations were detected by NGS. Post induction bone marrow showed no evidence of acute leukemia with normal cytogenetics and FISH results. Subsequent two bone marrow exams performed due to progressive cytopenias demonstrated a prominent histiocytic proliferation with sheets of mature appearing histiocytes with abundant cytoplasm, oval to folded nuclei and occasional hemophagocytosis. This population was positive for CD163, CD14, CD68R, CD68, cyclin D1 with variable OCT2 expression and low proliferative activity. PAX5 P80R and KRAS G13D were detected. AML FISH panel showed aneuploidy in histiocytic appearing cells and IgH gene rearrangement studies by PCR showed prominent clonal population. The patient remained pancytopenic and died of disseminated fungal infection. Results (if a Case Study enter NA) NA Conclusion PAX5 P80R mutation has been primarily reported in B-ALL and is exceedingly rare in acute myeloid leukemias. This alteration has been linked to downregulation of B-cell lineage genes affecting B-cell maturation, and not surprisingly a proportion of PAX5 P80R mutated B-ALL cases show a switch to a monocytic lineage. The reported case demonstrates diagnostic caveats including unusual features of acute leukemia at the time of initial diagnosis and subsequent genetically-related histiocytic proliferation.

Multimodal evaluation of hemorrhages within intraretinal cystoid spaces in a blood-fluid level presentation

Introduction: We describe characteristic findings on multimodal evaluation and the features of hemorrhage within a foveal cystoid space in a patient presenting cystoid macular edema secondary to Branch Retinal Vein Occlusion (BRVO). Case description: We report a case of a 64-year-old diabetic male patient presenting gradual blurry vision in the left eye. Fundoscopic findings were suggestive of BRVO, such as hard exudates and mild venous engorgement superotemporally and diffuse macular intraretinal hemorrhages. In the foveal area, there was cystoid edema with blood-fluid level (BFL) inside one of the cystoid spaces. Retina multimodal evaluation, including color, blue filter, and red-free fundus photography, fluorescein angiography, fundus autofluorescence, and spectral-domain optical coherence tomography (SD-OCT) B and C scan imaging, confirmed blood within foveal cystoid space. The patient underwent antiangiogenic therapy with significant improvement of macular edema and reduction of the cystoid space after 3 months. In addition, there was a resolution of visual symptoms. The cystoid space previously partially filled with blood, persisted, despite presenting smaller volume and medium reflectivity in the SD-OCT. Conclusions: Multimodal evaluation of blood-fluid level within foveal cystoid space in patients with BRVO has not been described previously. Identification of this sign may support the diagnosis of retinal vein occlusion in doubtful cases and further studies must be carried out to establish if the presence of BFL correlates with visual outcomes.