BACKGROUND: Chronic Granulomatous Disease (CGD) is a rare immunodeficiency disorder characterized by impaired phagocytic function, leading to recurrent infections and granuloma formation. Genetic mutations in NADPH oxidase complex components, such as CYBB, NCF1, NCF2, and CYBA genes, contribute to the pathogenesis. This case report explores the possible ocular and hematologic complications associated with CGD.
METHODS: A 6-year-old girl with a history of vitrectomy, membranotomy, and laser therapy due to congenital blindness (diagnosed with chorioretinopathy) was referred to the hospital with generalized ecchymosis and thrombocytopenia. Diagnostic workup initially suggested chronic immune thrombocytopenic purpura (ITP). Subsequent admissions revealed necrotic wounds, urinary tract infections, and recurrent thrombocytopenia. Suspecting immunodeficiency, tests for CGD, Nitroblue tetrazolium (NBT) and dihydrorhodamine (DHR) were performed. She had a low DHR (6.7), and her NBT test was negative (0.0%). Her whole exome sequencing results confirmed autosomal recessive CGD with a homozygous NCF1 mutation.
CONCLUSIONS: This case underscores the diverse clinical manifestations of CGD, including recurrent thrombocytopenia and possible early-onset ocular involvement. The diagnostic challenges highlight the importance of a multidisciplinary approach involving hematologists, immunologists, and ophthalmologists for accurate diagnosis and management. The rare coexistence of ITP in CGD emphasizes the intricate link between immunodeficiency and autoimmunity, requiring tailored therapeutic strategies.

OBJECTIVE: To review all studies reporting the occurrence of white dot syndromes (WDSs) following SARS-COV-2 infection.
METHODS: On May 12, 2023, we registered our protocol on PROSPERO [registration number: CRD42023426012]. Five different databases including PubMed, Scopus, Web of Science, Google Scholar, and Science Direct were searched up to May 2023. We included all studies that reported the symptoms of WDSs following SARS-COV-2 infection. The data was extracted using a uniform Excel extraction sheet. All statistical tests were conducted with a 95% confidence interval and a 5% error margin. A p-value of less than 0.05 was considered statistically significant. The publication bias of included studies was assessed using JBI Critical Appraisal Checklist for Case Reports and IHE Quality Appraisal Checklist for Case Series studies.
RESULTS: This review included thirty-two studies involving forty-eight patients. Acute macular neuroretinopathy was the most common disease (70.8%) followed by multiple evanescent white dot syndrome (14.6%) with 58.3% of WDS after their first SARS-COV-2 infection, and paracentral acute middle maculopathy (4.1%). They were mostly unilateral (56.2%). The presenting symptoms were blurred vision (70.8%), visual field disturbance (68.7%), and photopsia (20.8%). About 35.4% of the patients improved by their treatment and future complications were persistent scotoma (4.2%) and macular edema (2.1%).
CONCLUSIONS: White dot syndromes are very rare entities. Our findings suggest a possible association between white dot syndrome onset and SARS-COV-2 infection. We recommend ophthalmologists should be aware of this suggested association to deliver better management and patients\' care.

OBJECTIVE: To review all studies reporting the onset of white dot syndromes following COVID-19 vaccines.
METHODS: Our protocol was registered prospectively on PROSPERO [registration number: CRD42023426012]. We searched five different databases including PubMed, Scopus, Web of Science, Google Scholar, and Science Direct up to May 2023. All the studies that reported the occurrence of white dot syndrome following COVID-19 vaccines were included. All statistical tests were conducted with a 95% confidence interval and a 5% error margin. A p value of less than 0.05 was considered statistically significant. The methodological quality of included studies was performed using the IHE Quality Appraisal Checklist for Case Series studies and JBI Critical Appraisal Checklist for Case Reports.
RESULTS: Fifty studies involving seventy-one subjects were included. Multiple evanescent white dot syndrome (MEWDS) was the most common disease (n = 25, 35.2% %), followed by acute macular neuroretinopathy (AMN) (n = 22, 31.0%) and acute posterior multifocal placoid pigment epitheliopathy (APMPPE) (n = 4, 5.6%). They were mostly unilateral (n = 50, 70.4%). The presenting symptoms were blurred vision (n = 26, 36.6%), paracentral scotoma (n = 19, 26.8%), visual field disturbance, and photopsia (n = 7, 9.9%). The mean duration for follow-up was 10.15 ± 14.04 weeks. Nineteen subjects (29.69%) received steroids with improvement reported in 68.4%. Eleven subjects (17.19%) were managed by observation only with reported full recovery and improvement.
CONCLUSIONS: White dot syndromes are very rare entities. Our findings highlight a possible association between COVID-19 vaccines and the occurrence of white dot syndromes. However, larger studies with good quality should be implemented to confirm these findings.

UNASSIGNED: To report two patients with herpetic zoster panuveitis and chorioretinopathy with choroidal hypopigmentation.
UNASSIGNED: Retrospective chart review of two patients.
UNASSIGNED: We report a series of two patients with a history of HZO with orbital inflammation and panuveitis, who developed patchy choroidal depigmentation consistent with a choroidopathy. The lesions were extensive and involved the posterior pole and mid-periphery in both cases. Both cases demonstrated scattered areas of ellipsoid zone loss, and fluorescein angiography showed corresponding late hyperfluorescence. OCTA in one case demonstrated flow voids at the level of choriocapillaris.
UNASSIGNED: Our series suggests that herpetic chorioretinopathy may be a relatively benign process that presents late and may involve large areas of the posterior choroid.

Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHADD) is the only fatty acid oxidation disorder to develop a progressive chorioretinopathy resulting in vision loss; newborn screening (NBS) for this disorder began in the United States around 2004. We compared visual outcomes among 40 participants with LCHADD or trifunctional protein deficiency diagnosed symptomatically to those who were diagnosed via NBS or a family history. Participants completed ophthalmologic testing including measures of visual acuity, electroretinograms (ERG), fundal imaging, contrast sensitivity, and visual fields. Records were reviewed to document medical and treatment history. Twelve participants presented symptomatically with hypoglycemia, failure to thrive, liver dysfunction, cardiac arrest, or rhabdomyolysis. Twenty eight were diagnosed by NBS or due to a family history of LCHADD. Participants diagnosed symptomatically were older but had similar percent males and genotypes as those diagnosed by NBS. Treatment consisted of fasting avoidance, dietary long-chain fat restriction, MCT, C7, and/or carnitine supplementation. Visual acuity, rod- and cone-driven amplitudes on ERG, contrast sensitivity scores, and visual fields were all significantly worse among participants diagnosed symptomatically compared to NBS. In mixed-effects models, both age and presentation (symptomatic vs. NBS) were significant independent factors associated with visual outcomes. This suggests that visual outcomes were improved by NBS, but there was still lower visual function with advancing age in both groups. Early diagnosis and treatment by NBS is associated with improved visual outcomes and retinal function compared to participants who presented symptomatically. Despite the impact of early intervention, chorioretinopathy was greater with advancing age, highlighting the need for novel treatments.

UNASSIGNED: Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, typically inherited as a recessive trait, is a genetic condition predominantly observed in Central and Eastern Europe, with birth prevalence in Poland amounting to 1/118,336. In most European countries, e.g., in Poland since 2014, this disorder is included in newborn screening.
UNASSIGNED: This paper presents the ophthalmic symptoms of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency in three pediatric patients. Visual acuity testing, fundus photography, and optical coherence tomography (OCT) were performed and data were collected over several years (2017-2022). In case 1, a female born in 2010, exhibited abnormalities in the central part of the posterior pole, mainly in the macula, and included choriocapillaris atrophy and severe disruption of the outer retinal layer. Case 2, a female born in 2012, presented with progressive shortsightedness and choroid atrophy documented with angio-OCT. Case 3, a male born in 2013, experienced recurrent hospitalizations due to metabolic decompensations and presented with mild myopia, thinning of the choroid layer, and slight pigment dispersion with macular sparing.
UNASSIGNED: The main ophthalmic symptoms of LCHAD deficiency were choroidal atrophy, disorganization of the outer retinal layer, and myopia. Choroidal atrophy and pigment dispersion were consistently the earliest signs of LCHAD-associated chorioretinopathy. Although the progression of chorioretinopathy in each case resulted from metabolic decompensation, one documented case revealed that not every metabolic crisis results in ophthalmological changes. Nonetheless, strict adherence to a low-fat, high-carbohydrate diet remains crucial to prevent gradual deterioration and vision loss.

UNASSIGNED: To investigate the occurrence of chorioretinopathy post-COVID-19, emphasizing demographic characteristics, medication history, clinical presentation, diagnostic evaluation, and treatment approaches, with a specific focus on the role of corticosteroid use.
UNASSIGNED: Our protocol was registered prospectively on PROSPERO (CRD42023457712). A systematic search of databases (PubMed, Cochrane, WOS, Scopus) from November 2020 to August 2023 were performed to identify any original research reporting chorioretinopathy in COVID-19 patients. Data extraction included patient demographics, COVID-19 timeline, medication history, symptoms, diagnostic tests, and treatment outcomes. We used Joanna Briggs Institute (JBI) critical appraisal tool to assess the quality of our included studies.
UNASSIGNED: We identified seven case reports and two case series including 10 patients, six females and four males (mean age 36.5 years), who exhibited chorioretinopathy after COVID-19. Onset varied from 6 days to three months post-infection (average = 24.3 days). Seven patients (70%) had a history of corticosteroid use during COVID-19 treatment. Symptoms included visual loss, blurred vision, and deterioration. Diagnostic assessments revealed central serous chorioretinopathy in seven patients (70%) and punctate inner choroidopathy in two (20%). Treatment approaches varied, with corticosteroid discontinuation leading to symptom improvement, while two patients were treated with corticosteroids. Five patients who discontinued corticosteroids were reported to have improvement in visual acuity, two of them changed to 20/25 after being 20/40, two changed to 6/6, and one changed to 20/20, while the visual acuity in the sixth patient was not reported. Regarding the two patients who were treated with corticosteroids, visual acuity was reported in one case only and it improved to 20/20.
UNASSIGNED: This systematic review states the prevalence and potential association between chorioretinopathy, and corticosteroid use in the context of COVID-19. This relation is still unclear because of the relief of symptoms in some cases after corticosteroid discontinuation, while two other cases were treated with corticosteroids and their symptoms improved.

Kinesin motors play a fundamental role in development by controlling intracellular transport, spindle assembly, and microtubule organization. In humans, patients carrying mutations in KIF11 suffer from an autosomal dominant inheritable disease called microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR). While mitotic functions of KIF11 proteins have been well documented in centrosome separation and spindle assembly, cellular mechanisms underlying KIF11 dysfunction and MCLMR remain unclear. In this study, we generate KIF11-inhibition chick and zebrafish models and find that KIF11 inhibition results in microcephaly, chorioretinopathy, and severe developmental defects in vivo. Notably, loss-of-function of KIF11 causes the formation of monopolar spindle and chromosome misalignment, which finally contribute to cell cycle arrest, chromosome instability, and cell death. Our results demonstrate that KIF11 is crucial for spindle assembly, chromosome alignment, and cell cycle progression of progenitor stem cells, indicating a potential link between polyploidy and MCLMR. Our data have revealed that KIF11 inhibition cause microcephaly, chorioretinopathy, and development disorders through the formation of monopolar spindle, polyploid, and cell cycle arrest.

UNASSIGNED: To develop an updated staging system for long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency (LCHADD) chorioretinopathy based on contemporary multimodal imaging and electrophysiology.
UNASSIGNED: We evaluated forty cases of patients with genetically confirmed LCHADD or trifunctional protein deficiency (TFPD) enrolled in a prospective natural history study. Wide-field fundus photographs, fundus autofluorescence (FAF), optical coherence tomography (OCT), and full-field electroretinogram (ffERG) were reviewed and graded for severity.
UNASSIGNED: Two independent experts first graded fundus photos and electrophysiology to classify the stage of chorioretinopathy based upon an existing published system. With newer imaging modalities and improved electrophysiology, many patients did not fit cleanly into a single traditional staging group. Therefore, we developed a novel staging system that better delineated the progression of LCHADD retinopathy. We maintained the four previous delineated stages but created substages A and B in stages 2 to 3 to achieve better differentiation.
UNASSIGNED: Previous staging systems of LCHADD chorioretinopathy relied on only on the assessment of standard 30 to 45-degree fundus photographs, visual acuity, fluorescein angiography (FA), and ffERG. Advances in recordings of ffERG and multimodal imaging with wider fields of view, allow better assessment of retinal changes. Following these advanced assessments, seven patients did not fit neatly into the original classification system and were therefore recategorized under the new proposed system.
UNASSIGNED: The new proposed staging system improves the classification of LCHADD chorioretinopathy, with the potential to lead to a deeper understanding of the disease\'s progression and serve as a more reliable reference point for future therapeutic research.

Acute central serous chorioretinopathy (ACSCR) is a condition characterized by decreased visual acuity, macular thickening, and edema under the retinal layer. Although the underlying mechanisms of the disease are not fully understood, oxidative stress is considered to be a critical risk factor. The aim of this study was to shed light on the pathophysiology of ACSCR by investigating the levels of circulating trimethylamine N-oxide (TMAO), phoenixin (PNX), alarin (ALA), and spexin (SPX) molecules in ACSCR patients.
The study included 30 ACSCR patients and 30 healthy individuals as controls. ACSCR was diagnosed using optical coherence tomography (OCT) imaging. Five mL blood samples were collected from all participants following overnight fasting. The levels of TMAO, PNX, ALA, and SPX in the blood samples were measured using the ELISA method.
Visual acuity was found to be significantly reduced in ACSCR patients compared to the control group (<0.05), while macular thickness was increased (<0.05). Furthermore, TMAO, PNX, and ALA levels were significantly higher in ACSCR patients (<0.05), while SPX levels were significantly lower compared to the control group (<0.05). In ACSCR patients, there was a positive correlation between macular thickness and TMAO, PNX, and ALA; there was, however, a negative correlation with SPX. Additionally, visual acuity was negatively correlated with TMAO, PNX, and ALA, while SPX levels decreased as visual acuity decreased.
These results demonstrate a correlation between the TMAO, PNX, ALA, and SPX levels of ACSCR patients and their visual acuity and macular thickness. Given the role of these molecules in ACSCR\'s pathophysiology, they hold promise as potential diagnostic, therapeutic, and follow-up markers in the future.