Punctate inner choroidopathy in common variable immunodeficiency associated with a pathogenic variant in the tumour necrosis factor receptor superfamily 13b (TNFRSF13B) gene - Case report and review of the literature.

BACKGROUND: Common variable immunodeficiency (CVID) has been recognised as the most common primary immunodeficiency in adulthood, and is characterised by increased susceptibility to infection, autoimmunity and increased risk of malignancies. Although ocular manifestations are not common in CVID, rare associated inflammatory eye conditions have been reported including submacular choroiditis. OBJECTIVE: To report a case of punctate inner choroidopathy in a patient with common variable immunodeficiency. CASE PRESENTATION: A 40-year-old lady with CVID and associated autoimmune thrombocytopenia, who was treated with immunoglobulin replacement and Eltrombopag, experienced gradually deteriorating right eye vision. Fundal examination and optical coherence tomography (OCT) revealed right multifocal retinal choroidal lesions consistent with a diagnosis of unilateral punctate inner choroidopathy (PIC) with secondary choroidal neovascularisation (CNV). Anti-VEGF injections led to stabilised fundal appearances. Genetic testing revealed a heterozygous sequence change c.260 T > Ap.(IIe87Asn), pathogenic variant in the Tumour Necrosis Factor Superfamily 13B (TNFRSF13B) gene, which is reported as being associated with ∼10% of CVID cases. CONCLUSION: Autoimmunity may be the dominant clinical presenting feature of CVID. Punctuate inner choroidopathy is an idiopathic inflammatory chorioretinopathy, and to the best of our knowledge, has not been previously reported in CVID. A better understanding of the molecular bases of autoimmune diseases in CVID may provide novel therapeutic targets for autoimmune diseases in this patient population.

PRIMARY MULTIPLE EVANESCENT WHITE DOT SYNDROME AND MULTIPLE EVANESCENT WHITE DOT SYNDROME SECONDARY TO MULTIFOCAL CHOROIDITIS/PUNCTATE INNER CHOROIDOPATHY: A Comparative Study.

PURPOSE: To present and compare the clinical features and multimodal imaging (MMI) findings of the primary form of multiple evanescent white dot syndrome (MEWDS) and MEWDS secondary to multifocal choroiditis/punctate inner choroidopathy (MFC/PIC). METHODS: A prospective case series. Thirty eyes of 30 MEWDS patients were included and divided into the primary MEWDS group and MEWDS secondary to MFC/PIC group. Demographic, epidemiologic, and clinical characteristics and MEWDS-related MMI findings of the two groups were compared. RESULTS: Seventeen eyes from 17 patients with primary MEWDS and 13 eyes from 13 patients with MEWDS secondary to MFC/PIC were evaluated. Patients with MEWDS secondary to MFC/PIC tended to have a higher degree of myopia than those with primary MEWDS. No other significant differences in demographic, epidemiologic, and clinical characteristics and MMI findings were found between the two groups. CONCLUSION: "MEWDS-like reaction" hypothesis seems to be correct for MEWDS secondary to MFC/PIC, and the authors highlight the importance of MMI examinations in MEWDS. Further research is needed to confirm whether the hypothesis is applicable to other forms of secondary MEWDS.

Visual acuity loss and development of ocular complications in white dot syndromes: a longitudinal analysis of 3 centers.

PURPOSE: To compare the clinical prognosis among selected white dot syndromes (WDS) (birdshot chorioretinopathy (BRC), multifocal choroiditis, serpiginous choroidopathy (SC), and others) and to identify risk factors of poor visual prognosis. METHODS: Retrospective longitudinal cohort study including 84 patients (143 affected eyes) diagnosed with WDS between 1982 and July 2017, followed up until loss of follow-up or December 2017, and recruited from three Uveitis Clinics (Madrid Community, Spain). Our main outcome measures were temporary or permanent moderate (corrected visual acuity in the Snellen scale < 20/50) or severe (< 20/200) vision losses, and development of new ocular complications. Incidence rates (IR) of the main outcome measures were estimated per 100 eye-years. Bivariate and multivariate Cox robust regression models analyzed the association of demographic- and clinical-related variables with vision loss. RESULTS: SC exhibited the greatest IR of vision loss, even in the multivariate models. Previous events of vision loss, presence of choroidal neovascularization, and cataracts exhibited worse visual prognosis. Monotherapy with immunosuppressive drugs but not combine therapy was also associated with higher IR of visual loss. Regarding new ocular complications, BRC showed the highest IR of epiretinal membrane and macular edema. CONCLUSIONS: SC presents the worst visual prognosis. Some ocular manifestations can identify patients with WDS at risk of a worse clinical evolution.

Acute Posterior Multifocal Placoid Pigment Epitheliopathy Complicated by Fatal Cerebral Vasculitis.

A 21-year-old man experienced unilateral vision loss associated with multiple atrophic chorioretinal lesions. He was treated for a presumptive diagnosis of acute retinal necrosis, but his vision did not improve with antiviral therapy. Over the course of several weeks, his symptoms progressed to involve both eyes. The fellow eye showed characteristic yellow-white placoid lesions, prompting treatment with oral corticosteroids for acute posterior multifocal placoid pigment epitheliopathy (APMPPE). Despite high-dose therapy with prednisone 80 mg daily, the patient developed the acute onset of mental status changes within the next several days. Neuroimaging revealed multifocal large-vessel strokes associated with cerebral edema; these infarcts led to herniation and death. Postmortem histopathologic examination confirmed granulomatous inflammation in both ocular and cerebral vasculatures. Together with findings from multimodal imaging obtained throughout this patient's clinical course, our findings support the notion that granulomatous choroiditis is the mechanism of the ocular lesions seen in APMPPE. This granulomatous inflammation can also affect cerebral vessels, leading to strokes.

Acute posterior multifocal placoid pigment epitheliopathy: clinical presentation and risk of stroke and transient ischaemic attack.

BACKGROUND/AIMS: Acute posterior multifocal placoid pigment epitheliopathy is a rare but important disease that can be associated with life-threatening complications due to cerebral vasculitis. The primary objective was to determine the incidence of neurological complications and risk factors for stroke and transient ischaemic attack (TIA) associated with acute posterior multifocal placoid pigment epitheliopathy. Secondary objectives included the clinical presentation, visual outcomes and recurrence rates. METHODS: This was a multicentre retrospective case series including 111 eyes from 60 subjects presenting from January 2009 to June 2020. RESULTS: Median age at presentation was 29 years (IQR 24.7-35.1) and 36 subjects (60.0%) were male. 20 subjects (33.3%) reported a viral prodrome. Stroke and TIA were observed in seven subjects (11.7%). Older age was the only significant risk factor for stroke/TIA (p=0.042). Vision loss occurred in seven eyes, with four eyes (3.6%) having final visual acuity 6/15-6/60 and three eyes (2.7%) having visual acuity of 6/60 or worse. Recurrence occurred in 10 subjects (16.7%). CONCLUSIONS: The presence of headache cannot reliably predict those at risk of stroke/TIA. Individuals presenting with acute posterior multifocal pigment epitheliopathy should therefore undergo a clinical neurological review and work-up for cerebral vasculitis as deemed appropriate by the treating ophthalmologist and collaborating neurologist.

AZOOR with unilateral disc edema: An atypical case report.

Acute zonal occult outer retinopathy (AZOOR) diagnosis is challenging and frequently delayed. Atypical findings were described, nevertheless optic disc edema has not been consistently reported. In this study we pretend to describe a challenging diagnosis of AZOOR. In our case, a 19-year-old female presented painless vision loss in her right eye for 2 weeks. Fundus examination revealed optic disc hyperaemic edema and the visual field (VF) an enlarged blind spot. Non-infectious optic neuritis was assumed and intravenous corticotherapy administered. Four months later, VA had improved, but a VF defect persisted. Funduscopic examination showed mild peripapillary atrophy and autofluorescence zonal hyperautofluorescence around optic disc. Optical coherence tomography demonstrated diffuse loss of outer retinal layers and electroretinogram weakened signal at the corresponding region. In conclusion, unilateral optic disc edema, generally not associated with AZOOR typical presentation, hamper an early diagnosis and expresses this case relevance.

Multiple Evanescent White Dot Syndrome Associated with Coronavirus Infection: A Case Report.

Coronavirus disease 2019 (COVID-19) causes ocular manifestations in approximately 11% of patients. Most patients typically develop ocular symptoms within 30 days of the onset of the first COVID-19 symptoms. The most common ocular manifestation is conjunctivitis, which affects nearly 89% of patients with eye problems. Other much less common anterior segment abnormalities caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are scleritis, episcleritis, and acute anterior uveitis. Posterior segment abnormalities caused by SARS-CoV-2 are mainly vascular, such as hemorrhages, cotton wool spots, dilated veins, and vasculitis. Herein, we report a rare manifestation of COVID-19 and multiple evanescent white dot syndrome (MEWDS) of the retina. In April 2021, a 40-year-old female patient was admitted to the Eye Clinic of Clinical Center of Montenegro (Podgorica, Montenegro). The patient's main complaint was sudden vision impairment, which occurred 14 days after a positive polymerase chain reaction (PCR) test result for SARS-CoV-2 infection. A complete eye examination was performed, followed by fundoscopy, optical coherence tomography (OCT), and fluorescein angiography (FA) tests. The results showed retinal changes associated with MEWDS. The patient underwent additional examinations to rule out common causes of multifocal retinitis, all of which were unremarkable. Therefore, it was concluded that retinitis was a complication of COVID-19. Given its non-invasive nature, fundus examination should be used as a standard screening method for retinal changes in patients with COVID-19.

TRAUMA-RELATED ACUTE MACULAR NEURORETINOPATHY. A CASE REPORT.

AIMS: To introduce a case report and review the literature on trauma-related acute macular neuroretinopathy as an unusual etiology of acute macular neuroretinopathy. MATERIAL AND METHODS: A 24-year-old man presented with unilateral paracentral scotoma following non-ocular trauma in a car accident. The relative afferent pupillary defect was negative and the best corrected visual acuities of both eyes were 10/10 (by the Snellen chart scale). RESULTS: Retinoscopy revealed a reduced foveal reflex, along with a small pre-retinal hemorrhage over the mid-pathway of the supranasal arteriole. OCT images showed an obvious ellipsoid zone (EZ) layer disruption in the macula of the left eye. The infrared fundus photograph of the same eye revealed a distinct hyporeflective area involving the macula. On fundus angiography, no macular vascular lesion was detected. The scotoma persisted after 3 months follow-up. CONCLUSION: Non-ocular trauma including head or chest trauma without direct ocular injury accounts for most cases of trauma-related acute macular neuroretinopathy. It is important to distinguish this entity, given that there are also unremarkable findings in the retinal examination of these patients. Indeed, proper clinical suspicion leads to further suitable investigations and impedes other extraordinary images, which are the basic rules in the management of traumatic patients suffering multiple injuries and incurring medical expenses.

ACUTE MACULAR NEURORETINOPATHY FOLLOWING SARS-CoV-2 VACCINATION.

PURPOSE: To report a case of acute macular neuroretinopathy (AMN) following SARS-CoV-2 vaccination. METHODS: Case report. RESULTS: An otherwise healthy 28-year-old white woman presented to an ophthalmology department with complaints of black paracentral vision scotomata on both eyes that appeared 2 days after receiving the first dose of Vaxzevria vaccine. Fundus examination revealed bilateral red brown petaloid lesions around the fovea. On spectral domain optical coherence tomography, a hyperreflective plaque between the outer plexiform and outer nuclear layers along with disruption of ellipsoid zone/interdigitation zone was observed. A diagnosis of AMN was made. CONCLUSION: AMN may be an extremely rare adverse event of SARS-COV-2 vaccination, especially in patients with other risk factors. SYNOPSIS: An otherwise healthy 28-year-old white woman was diagnosed with AMN 2 days after SARS-CoV-2 vaccination.

Hyperbaric Oxygen Therapy Combined with Immunosuppression for Acute Macular Neuroretinopathy in Systemic Lupus Erythematosus.

PURPOSE: To describe the use of hyperbaric oxygen therapy (HBOT) in conjunction with immunosuppression for acute macular neuroretinopathy (AMN) in systemic lupus erythematosus (SLE). METHODS: Two known cases of SLE presented to us with blurred vision and paracentral scotomas due to AMN. Both cases reported worsening of their conditions despite the initiation of high-dose steroid therapy. HBOT was added on as a treatment modality to address vaso-occlusive ischemic injury. RESULTS: Both patients underwent a total of twelve cycles of HBOT. Functional and anatomical improvements were noted immediately after the initiation of therapy and were maintained over more than one year of follow-up. No significant retinal thinning was noted on optical coherence tomography on disease resolution, as has been noted previously. Visual field scotoma showed a complete resolution. CONCLUSION: Our cases suggest that HBOT may have a role in aiding functional and anatomical recovery in AMN associated with SLE.

Acute zonal occult outer retinopathy in a patient with retinitis pigmentosa.

A 30-year-old woman with a phenotypic presentation of retinitis pigmentosa (RP) presented with a 5-day history of painless, acute vision loss in her right eye, with visual acuity dropping from 20/30 to hand motions. Optical coherence tomography of the right macula showed near-complete loss of the ellipsoid layer. Treatment with a prolonged course of oral prednisone resulted in a complete structural regeneration of the ellipsoid layer and improvement of visual acuity to 20/50, with eccentric fixation. Tests for infectious diseases, autoimmune disorders, and rare RP mimic syndromes (eg, Refsum disease) were negative. The patient has remained stable since. We favor a diagnosis of two separate pathologies and suggest a designation of acute zonal occult outer retinopathy (AZOOR) in RP for this previously unreported presentation.

ACUTE MACULAR NEURORETINOPATHY AS THE PRESENTING MANIFESTATION OF COVID-19 INFECTION.

PURPOSE: To describe a case of sudden visual loss from acute macular neuroretinopathy (AMN) as the presenting manifestation of active COVID-19 infection. CASE REPORT: During the quarantine period of the COVID-19 pandemic, a 70-year-old man presented with a 1-day history of a paracentral scotoma of the left eye associated with diaphoresis. Four days later, the patient developed fever (38°C) followed by cough. Oral and nasal swab PCR testing was positive for COVID-19. Visual acuity in the day of presentation was 20/20 in the right eye and 20/100 in the left eye. Multimodal retinal imaging was unremarkable in the right eye, but cross-sectional optical coherence tomography displayed focal hyperreflectivity at the level of the outer nuclear layer associated with disruption of the ellipsoid zone. The corresponding en face optical coherence tomography revealed an inferonasal hyperreflective parafoveal lesion. At 1 month of follow-up, tracked optical coherence tomography of the macula showed resolution of the hyperreflective signal, thinning of the outer nuclear layer, and near-complete recovery of ellipsoid zone integrity. CONCLUSION: Patients with COVID-19 may rarely present with signs and symptoms of ocular disease. This case report describes a case of sudden visual loss caused by acute macular neuroretinopathy as the presenting manifestation of active COVID-19 infection.

A 15-YEAR-OLD BOY WITH PROTRACTED VISION LOSS FROM ACUTE POSTERIOR MULTIFOCAL PLACOID PIGMENT EPITHELIOPATHY.

PURPOSE: To present an atypical case of acute posterior multifocal placoid pigment epitheliopathy in a 15 year old treated with immunosuppressive therapy. METHODS: Interventional case report. RESULTS: On initial presentation, the vision was 20/200 in the right eye and 20/300 in the left eye. The posterior poles of both eyes showed numerous creamy-white placoid lesions. Fundus autofluorescence demonstrated hypoautofluorescence lesions with hyperautofluorescence rims, while fluorescein angiography showed early blockage followed by late staining. These findings were consistent with a diagnosis of acute posterior multifocal placoid pigment epitheliopathy. Optical coherence tomography demonstrated outer retinal disruptions and thinning. Due to the severity of his disease, the patient was treated first with oral prednisone and later transitioned to mycophenolate mofetil by 2 months. His poor vision persisted beyond a 5-month follow-up visit despite fading of the lesions and reconstitution of the outer retinal layers and thickness on optical coherence tomography. By 8 months of follow-up, the visual acuity returned to 20/20 bilaterally without any further recurrences. CONCLUSION: Although most patients with acute posterior multifocal placoid pigment epitheliopathy have a relatively short course and recover vision quickly, the use of steroids and immunosuppression may be of benefit for those patients with severe and prolonged visual loss.

Development of Secondary Choroidal Neovascularization in Focal Choroidal Excavation of Punctate Inner Choroidopathy.

Purpose: To elaborate a case of focal choroidal excavation (FCE) in punctate inner choroidopathy (PIC) complicated by secondary choroidal neovascularization (CNV) based on multimodal imaging findings.Methods: In this retrospective case report, multimodal imaging including near-infrared reflectance, blue peak autofluorescence, spectral domain-optical coherence tomography (OCT), fluorescein and indocyanine green angiography (Heidelberg Engineering GmbH, Germany), and swept source-OCT angiography (SS-OCTA; Topcon Corporation, Japan) was performed.Patients: A 27-year-old moderate myopic woman presented with inactive CNV of unknown origin in her left eye, which had been previously treated with intravitreal anti-vascular endothelial growth factor.Results: Multimodal imaging revealed PIC as the causative disease and systemic corticosteroids were administered. Similar complaints 13 months later showed new CNV formation at the already documented FCE. No sign of PIC could be detected at follow-up.Conclusion: This well-documented case highlighted FCE as the preferential location for CNV development in PIC with multimodal imaging emphasizing a chorioretinal entity.Summary: This case report demonstrated the clinical course of focal choroidal excavation in a patient initially diagnosed with punctate inner choroidopathy complicated by choroidal neovascularization and its treatment response, well documented by multimodal imaging including optical coherence tomography angiography.

The impact of impending / onset of vision loss on depression, anxiety, and vision-related quality of life in Birdshot-Retinochoroiditis and Serpiginous Choroiditis.

To evaluate the impact of Birdshot-Retinochoroidopathy (BSRC) and Serpiginous Choroiditis (SC) on depression, anxiety, and vision-related quality of life. 72 individuals (BSRC: n = 28, SC: n = 8; healthy control group (HC): n = 36) completed the Patient Health Questionnaire-9 (PHQ-9), Generalized Anxiety Disorder-7 (GAD-7), and the Visual Function Questionnaire (VFQ-25). Multivariate linear regression models were used to analyze different subscales of the PHQ-9, the GAD-7 and the VFQ-25. The results showed that the mean of PHQ-9 was significantly higher while the mean of the VFQ-25 and its´ subscales were consistently lower in the disease group compared to HC. The mean of GAD-7 was not significantly lower in the disease group compared to HC. Stratification for different disease severity stages and duration of disease did not reveal any differences in sum scores of PHQ-9, GAD-7, and VFQ-25, whereas there were significant differences in some subscales of the VFQ-25. We conclude that BSRC and SC patients show higher levels of depression and a reduced visual quality of life due to imminent loss of vision. Because depression and quality of life are adversely affected by lack of social contacts and functioning, psychological treatment should enable patients to maintain their independence and ability to social interaction. Psychosomatic care should be taken in account for the treatment of BSRC and SC.

Long-Term Outcome of Punctate Inner Choroidopathy or Multifocal Choroiditis with Active Choroidal Neovascularization Managed with Intravitreal Bevacizumab.

Purpose: To evaluate the long-term outcome of active choroidal neovascularization (CNV) in punctate inner choroidopathy (PIC) or multifocal choroiditis (MFC) after intravitreal bevacizumab treatment.Methods: Retrospective study of consecutive patients of PIC/MFC complicated with active CNV. Outcome measures included best-corrected visual acuity (BCVA), total number of intravitreal injections of bevacizumab and recurrence of CNV. Correlation analysis was performed to find the correlation of various clinical factors and final BCVA.Results: There were 23 eyes in 22 patients with a mean age of 33.22 years included in this study. The mean duration of follow-up was 6.48 years. Improvement of BCVA was noted through the first 3 years and at the final follow-up. BCVA at 1, 6, 12 months and recurrence of CNV were correlated with final BCVA.Conclusion: Most patients of PIC/MFC complicated with CNV managed with intravitreal bevacizumab had improved BCVA over 4 years.

A rare case of hemodialysis-related portosystemic encephalopathy and review of the literature.

Hemodialysis-related portosystemic encephalopathy (HRPSE) is a clinical phenomenon where portosystemic encephalopathy (PSE) develops without liver dysfunction, usually caused by changes in the portosystemic blood flow related to hemodialysis. We describe the case of a 22-year old patient with a transjugular intrahepatic portosystemic shunt (TIPS) who developed HRPSE several months after initiation of hemodialysis. Despite initial therapy with laxatives and neomycin symptoms recurred. It was only after relocation of the hemodialysis catheter from the superior caval vein to the femoral vein that symptoms completely resolved.

Choroidal juxtapapillary neovascularization regression in multiple evanescent white dot syndrome by optical coherence tomography angiography: a case report.

BACKGROUND: Multiple evanescent white dot syndrome most often resolves spontaneously without complications; however, choroidal neovascularization can sometimes occur. CASE PRESENTATION: Here, we describe a case of a 22-year-old white Caucasian man with blurred vision in his left eye who exhibited juxtapapillary choroidal neovascularization on optical coherence tomography angiography. Although multiple evanescent white dot syndrome is often self-limiting, to reduce the possibility of an inflammatory reaction, we preferred to administer prednisolone orally. After 3 months, significant regression of juxtapapillary neovascularization was observed by B-scan and optical coherence tomography angiography. Symptoms resolved in 3 months. A steady situation was observed at 4 years of follow-up. CONCLUSION: This case report highlights the helpful use of optical coherence tomography angiography in daily clinical practice, even in inflammatory diseases, such as atypical juxtapapillary neovascularization in multiple evanescent white dot syndrome. Choroidal neovascularization associated with multiple evanescent white dot syndrome by means of optical coherence tomography angiography showed neovascular activity regression, thus avoiding invasive therapy.

MULTIPLE EVANESCENT WHITE DOT SYNDROME WITH SUBRETINAL DEPOSITS.

PURPOSE: To describe the multimodal imaging findings of transient subretinal deposits occurring in multiple evanescent white dot syndrome (MEWDS). METHODS: The multimodal imaging characteristics of transient subretinal deposits occurring in MEWDS were investigated with ultra-widefield color and fundus autofluorescence, cross-sectional and en-face optical coherence tomography (OCT), en face OCT-angiography, and quantitative autofluorescence. RESULTS: A 28-year-old woman presented with photopsia and temporal visual field loss in her right eye. Her best-corrected visual acuity was 20/20 in her right eye and 20/25 in her left eye. Funduscopic examination showed characteristic peripapillary hyperautofluorescent white dots of MEWDS corresponding to ellipsoid zone disruption on OCT. These lesions became confluent throughout the posterior fundus over the next 4 weeks. As the patient's symptoms were resolving, a second type of transient hyperautofluorescent lesion was noted which corresponded to hyperreflective subretinal deposits on cross-sectional and en face structural OCT. These subretinal deposits were most evident at 10-week follow-up and had nearly resolved at 14-week follow-up. Quantitative autofluorescence showed that, unlike the acute MEWDS lesions, the hyperautoflurescence of the subretinal deposits persisted after photobleaching. At multiple time points over 14 weeks of follow-up, OCT angiography showed no evidence of retinal or choroidal flow abnormalities. CONCLUSION: Transient subretinal deposits may develop during MEWDS in areas of previous diffuse outer retinal disruption. As these deposits remain hyperautoflurescent on quantitative autofluorescence after photobleaching, they may represent accumulations of debris originating from damaged photoreceptor outer segments.