Wiskott-Aldrich Syndrome (WAS) is a rare X-linked immunodeficiency characterized by microthrombocytopenia, eczema, and recurrent infections. In addition to this classical triad, recent studies have emphasized the roles of immune dysregulation, autoimmunity, chronic inflammation, endothelial dysfunction, and increased susceptibility to infections. These factors contribute to a broader disease spectrum that may involve not only bleeding complications but also, in rare instances, thrombotic events. In this review, we present three siblings from the same family affected by WAS. Two of them were genetically confirmed to carry the c. mutation in the WAS gene; however, they exhibited markedly different clinical phenotypes. One presented severe thrombocytopenia and eczema, while the other developed retinal artery occlusion and thrombotic manifestations. The third sibling, although not genetically tested, died from fulminant sepsis following splenectomy for presumed immune thrombocytopenia, with clinical findings strongly suggestive of undiagnosed WAS. Through these illustrative cases, we explore the pathophysiological mechanisms underlying WAS, focusing on platelet dysfunction, autoimmune phenomena, infection susceptibility, and vascular complications. We also briefly review current treatment options, including hematopoietic stem cell transplantation, gene therapy, and novel immunomodulatory strategies. This case-based review highlights the phenotypic heterogeneity of WAS, the limitations of genotype-based predictions, and the importance of individualized management. A better understanding of the immunologic, infectious, and vascular aspects of the disease may facilitate earlier diagnosis and guide clinical decision-making in this complex disorder.

Acute retinal ischaemic events, ranging from central retinal artery occlusions (CRAO) and branch retinal artery occlusions (BRAO) to transient ischaemic monocular vision loss (TMVL), cause sudden and often severe vision loss, yet their broader implications for systemic vascular health are not well defined. To investigate this, we conducted a large, propensity-matched cohort study including a total of 566 patients at an academic ophthalmic hospital in London, United Kingdom, linking ophthalmic diagnoses to national records of cardiovascular events and mortality. Our findings reveal that patients experiencing a CRAO have a nearly threefold increased risk of a subsequent ischaemic stroke or myocardial infarction, when compared to matched controls. This elevated risk, however, was not apparent in individuals who suffered a BRAO or TMVL, suggesting a distinct risk profile for CRAO. Systemic comorbidities like hypertension and diabetes were prevalent in all groups. Atrial fibrillation was newly diagnosed in 6% of patients with CRAO within one year. Patients with BRAO were more likely to undergo carotid endarterectomy than those with CRAO. The substantial risk of serious cardiovascular morbidity following retinal arterial ischaemia highlights the need to ensure such patients benefit from early treatment and prolonged cardiac monitoring and rigorous implementation of secondary prevention in RAO and suspected embolic TMVL.

We report a fatal case of a 40-year-old man who developed rhino-orbito-cerebral mucormycosis complicated by central retinal artery occlusion, cavernous sinus thrombosis, and internal carotid artery occlusion. Mechanical thrombectomy was performed for the internal carotid artery occlusion, with subsequent Sanger sequencing of the fungal components within the retrieved thrombus to identify Rhizopus arrhizus. To the best of our knowledge, this is the first report establishing the species-level identification of R. arrhizus in mucormycosis-associated large-vessel occlusion. These findings provide direct histopathological evidence of angioinvasive mucormycosis attributable to R. arrhizus.

[This corrects the article DOI: 10.1371/journal.pone.0342739.].

Purtscher-like retinopathy (PLR) is a rare, vision-threatening occlusive microvasculopathy. We report a rare case of unilateral PLR following the initiation of chemotherapy for recurrent cervical carcinoma. A 54-year-old female with recurrent carcinoma of the cervical vault presented with sudden, painless diminution of vision in the left eye (visual acuity: 2/60), five days post-initiation of chemotherapy with gemcitabine and bevacizumab. Fundus examination revealed multiple superficial hemorrhages, cotton wool spots, and Purtscher flecken with macular edema, initially diagnosed elsewhere as a combined central retinal artery and vein occlusion. Systemic laboratory workup was unremarkable. A diagnosis of chemotherapy-induced PLR secondary to localized thrombotic microangiopathy was established. The patient was managed conservatively with close oncological follow-up. Gemcitabine and bevacizumab can precipitate localized thrombotic microangiopathy leading to PLR. Precise funduscopic evaluation is essential to distinguish PLR from combined retinal vascular occlusions to prevent unnecessary interventions and guide appropriate multidisciplinary management.

Retinal artery occlusion (RAO) is an ophthalmic emergency that causes sudden, painless vision loss due to retinal ischaemia. Hyperbaric oxygen therapy (HBOT), when initiated early, may help preserve photoreceptor function by increasing retinal oxygenation. A 69-year-old woman with a history of hypertension presented with sudden visual loss in the left eye and was diagnosed with RAO. HBOT was initiated within six hours of symptom onset (253 kPa [2.5 atmospheres absolute] for 90 minutes per session), and 20 sessions were planned. During the seventh session, the patient reported a marked improvement in visual acuity in the contralateral (right) eye, previously diagnosed with choroidal neovascular membrane (CNVM) and untreated with anti-vascular endothelial growth factor (VEGF) therapy. Optical coherence tomography demonstrated regression of the CNVM and complete resolution of subretinal fluid. To our knowledge, this is the first report suggesting that HBOT administered for unilateral RAO may also promote structural and functional improvement of CNVM in the contralateral eye.

An 80-year-old woman with a history of non-Hodgkin lymphoma and branch retinal artery occlusion presented with acute visual changes and received a diagnosis of multifocal embolic cerebral infarcts. Cardiac imaging revealed a mobile left atrial mass on the mitral valve. Surgical excision was undertaken because of the high risk of recurrent embolization and strokes. Histopathologic examination demonstrated chronic lymphocytic leukemia/small lymphocytic lymphoma within a fibrinous and calcified matrix. This case illustrates a rare intracardiac manifestation of lymphoma serving as a cardioembolic source and highlights the importance of considering hematologic malignant disease in the differential diagnosis of intracardiac masses.