Fundus Appearance Research Articles

Recognizing Leber's Hereditary Optic Neuropathy to avoid delayed diagnosis and misdiagnosis.

Leber's Hereditary Optic Neuropathy (LHON) is a maternally inherited optic nerve disease primarily caused by mutations in mitochondrial DNA (mtDNA). The peak of onset is typically between 15 and 30 years, but variability exists. Misdiagnosis, often as inflammatory optic neuritis, delays treatment, compounded by challenges in timely genetic diagnosis. Given the availability of a specific treatment for LHON, its early diagnosis is imperative to ensure therapeutic appropriateness. This work gives an updated guidance about LHON differential diagnosis to clinicians dealing also with multiple sclerosi and neuromyelitis optica spectrtum disorders-related optic neuritis. LHON diagnosis relies on clinical signs and paraclinical evaluations. Differential diagnosis in the acute phase primarily involves distinguishing inflammatory optic neuropathies, considering clinical clues such as ocular pain, fundus appearance and visual recovery. Imaging analysis obtained with Optical Coherence Tomography (OCT) assists clinicians in early recognition of LHON and help avoiding misdiagnosis. Genetic testing for the three most common LHON mutations is recommended initially, followed by comprehensive mtDNA sequencing if suspicion persists despite negative results. We present and discuss crucial strategies for accurate diagnosis and management of LHON cases.

Clinical-Laboratory Outcome of Cryptococcus sp. Multifocal Choroiditis in Acquired Immunodeficiency Syndrome Patients

ABSTRACT Purpose This study aims to describe the clinical and laboratory outcomes of patients with Acquired Immunodeficiency Syndrome (AIDS) presenting multifocal choroiditis secondary to Cryptococcus sp. infection. Methods We reviewed the clinical records of AIDS patients diagnosed with cryptococcal multifocal choroiditis at the Laboratory of Infectious Disease in Ophthalmology, Oswaldo Cruz Foundation, from January 2022 to March 2024. Patients meeting the criteria of typical fundus appearance associated with disseminated cryptococcosis laboratory diagnosis were included. Data collected included age, gender, symptoms, plasma HIV viral load, serum T-CD4+ cell count (cells/mm3), initial visual acuity (VA), laboratory methods for cryptococcosis diagnosis, treatment, and final VA. All patients underwent multimodal evaluation including spectral domain optical coherence tomography, fluorescein angiography (FA), and indocyanine green angiography (ICG). Results Six patients were evaluated, comprising five males (83%) and one female (17%), with a mean age of 36.5 years (standard deviation, SD: 10,46). Five patients (83%) presented with meningeal syndrome. Mean HIV plasma viral load was 262.959 copies/mm3 (SD: 209.469), and the mean serum T-CD4 count was 13.33 cells/mL (SD: 14,63). All patients tested positive for serum cryptococcal antigen (CRAG). Four patients (67%) had positive cerebrospinal fluid (CSF) culture and CRAG. Treatment included intravenous Amphotericin B and oral Fluconazole. Among twelve eyes (100%), four (33%) achieved visual recovery, while eight (67%) maintained initial VA. Lesions were more numerous and distinct on ICG compared to fundus examination and FA. Conclusion This study underscores the importance of clinical, laboratory, and multimodal evaluations in AIDS patients presenting with cryptococcal multifocal choroiditis.

“Headlight in the fog” fundus appearance: Is just a sign and not a conclusion

“Headlight in the fog” fundus appearance: Is just a sign and not a conclusion

Ocular toxocariasis masquerading as toxoplasmosis: a case report and literature review

Background: False-negative and false-positive results in Toxoplasma serology are possible, and this could be misleading. Here, we report the case of a boy with Toxocara-associated panuveitis who was initially treated for toxoplasmosis owing to false-positive Toxoplasma immunoglobulin M (IgM) serology. Case Presentation: A nine-year-old boy presented with intermittent headaches and blurred vision in the left eye. Close contact with domesticated animals was remarkable in the patient’s history. Upon examination, vision was 20/400 in the left eye. Slit-lamp examination revealed anterior chamber cells and flare without keratic precipitates, with vitreous cells and veils, optic disc edema, and a blurred fundus appearance. A systemic investigation revealed the presence of anti-Toxoplasma IgM antibodies. Treatment was initiated using topical cycloplegic and corticosteroid eye drops, in addition to oral trimethoprim/sulfamethoxazole. Oral corticosteroids were also administered. As the inflammation resolved, an inferior tractional detachment was detected on fundus examination, leading to the ultimate diagnosis of ocular toxocariasis. An enzyme-linked immunosorbent assay was positive for serum Toxocara antibodies. A fourteen-day course of oral albendazole was ordered by the pediatric infectious disease service because of the concern for visceral larva migrans, while topical eye drops were continued and oral prednisone was tapered. One month later, visual acuity in the left eye had improved to 20/70. The anterior chamber inflammation resolved; however, some vitreous cells and optic disc edema persisted. The inferior tractional detachment was much better visualized, and a peripheral granuloma was observed. Four months later, without any oral or topical medications, the patient’s visual acuity had improved to 20/30 and his eye had no active inflammation. The patient has been followed up for two years and has never developed any other lesions. Conclusions: False-positive results on Toxoplasma serology and diffuse vitritis from toxocariasis that limited retinal visualization complicated the initial diagnosis in this case. In diagnosing the etiology of uveitis, ocular examination and detailed history taking should be emphasized, as laboratory results may be misleading.

Varied clinical presentations of RP1L1 variants in Chinese patients: a study of occult macular dystrophy and vitelliform macular dystrophy

BackgroundOccult Macular Dystrophy (OMD), primarily caused by retinitis pigmentosa 1-like 1 (RP1L1) variants, is a complex retinal disease characterised by progressive vision loss and a normal fundus appearance. This study aims to investigate the diverse phenotypic expressions and genotypic correlations of OMD in Chinese patients, including a rare case of Vitelliform Macular Dystrophy (VMD) associated with RP1L1.MethodsWe analysed seven OMD patients and one VMD patient, all with heterozygous pathogenic RP1L1 variants. Clinical assessments included Best Corrected Visual Acuity (BCVA), visual field testing, Spectral Domain Optical Coherence Tomography (SD-OCT), multifocal Electroretinograms (mfERGs), and microperimetry. Next-generation sequencing was utilised for genetic analysis.ResultsThe OMD patients displayed a range of phenotypic variability. Most (5 out of 7) had the RP1L1 variant c.133 C > T; p.R45W, associated with central vision loss and specific patterns in SD-OCT and mfERG. Two patients exhibited different RP1L1 variants (c.3599G > T; p.G1200V and c.2880G > C; p.W960C), presenting milder phenotypes. SD-OCT revealed photoreceptor layer changes, with most patients showing decreased mfERG responses in the central rings. Interestingly, a unique case of VMD linked to the RP1L1 variant was observed, distinct from traditional OMD presentations.ConclusionsThis study highlights the phenotypic diversity within OMD and the broader spectrum of RP1L1-associated macular dystrophies, including a novel association with VMD. The findings emphasise the complexity of RP1L1 variants in determining clinical manifestations, underscoring the need for comprehensive genetic and clinical evaluations in macular dystrophies.

Late-Onset Slowly Progressing Cone/Macular Dystrophy in Patients With the Biallelic Hypomorphic Variant p.Arg1933Ter in RP1.

Homozygous hypomorphic variants of the RP1 gene, including c.5797C>T, p.Arg1933Ter, have traditionally been considered non-pathogenic. This study aimed to elucidate the clinical manifestations of late-onset, slowly progressive cone/macular dystrophy in patients homozygous for p.Arg1933Ter in the RP1 gene. Five patients with biallelic p.Arg1933Ter in RP1 were retrospectively recruited, and their clinical profiles were analyzed. Copy number variation analysis and Alu insertion assessment of genes associated with inherited retinal diseases were conducted. The results of comprehensive ophthalmological examinations, multimodal imaging, and full-field electroretinogram tests were analyzed. No specific sequencing errors or structural variations associated with the clinical phenotypes were identified. Alu element insertion in RP1 was not detected. The mean ± SD age at the first visit was 62.2 ± 9.8 years, with symptoms typically starting between 45 and 50 years of age. Two patients exhibited a mild form of cone/macular dystrophy, characterized by a relatively preserved fundus appearance and blurring of the ellipsoid zone on optical coherence tomography. Three patients had late-onset cone/macular dystrophy with significant atrophy. To our knowledge, this study is the first to report that a homozygous hypomorphic variant of RP1, previously considered non-pathogenic, leads to cone/macular dystrophy. The study introduces novel possibilities suggesting that the homozygous hypomorphic variant of RP1 may be linked to variant pathogenicity.

Chorioretinopathy presenting as bitemporal hemianopia

IntroductionBitemporal hemianopia is usually caused by chiasmal pathology. Rarely, chorioretinal lesions may develop symmetrically in both eyes and mimic chiasmopathy. MethodsThis case series included three patients who presented to a tertiary neuro-ophthalmology centre with bitemporal hemianopic defects between 2021 and 2023 and were subsequently diagnosed with bilateral chorioretinopathy. All patients received comprehensive examinations from a fellowship-trained neuro-ophthalmologist and uveitis specialist to rule out other causes of visual dysfunction. ResultsThree males aged 64, 62, and 72 years were included. All patients showed bitemporal hemianopic defects crossing the vertical midline on automated perimetry and binasal thinning of the macular ganglion cell complex on spectral-domain optical coherence tomography (OCT). Fundus autofluorescence (FAF) showed classical features of acute zonal occult outer retinopathy (AZOOR) in two patients and central serous chorioretinopathy (CSCR) in another. AZOOR diagnosis was preceded by neuroimaging in both cases, whereas the patient with CSCR had longstanding, electroretinography-confirmed lesions and did not require neuroimaging. Fundus appearance and visual field defects remained stable in all patients across 3–6 months of follow-up. ConclusionsBilateral chorioretinopathy should be considered in the differential diagnosis of bitemporal hemianopia in specific cases, including when visual field defects cross the vertical midline and when neuroimaging fails to reveal chiasmal pathology. FAF and macular OCT have high diagnostic yield as initial investigations.

TOCILIZUMAB RESOLVES REFRACTORY MACULAR EDEMA ASSOCIATED TO RETINITIS PIGMENTOSA.

The aim of this report is to describe the resolution of refractory cystoid macular edema (CME) associated to retinitis pigmentosa (RP) with IV tocilizumab in three patients. Retrospective study of a series of consecutive cases of patients treated with off-label IV tocilizumab (anti IL6) for CME refractory to acetazolamide 250 mg for 3 months. Patients were diagnosed with RP by fundus appearance, electrophysiology, visual fields, and genetic testing. A complete ophthalmic examination including spectral-domain optical coherence tomography was performed. Three patients with RP and CME refractory to acetazolamide 250 mg for 3 months were treated with monthly IV tocilizumab for at least six months.All patients resolved CME and improved visual acuity after the third month of IV tocilizumab, resolving systemic and ocular adverse events related to previous treatments for CME. Tocilizumab was well tolerated with no other adverse events. CME causes visual impairment in RP, but current treatments are usually deficient. Tocilizumab has been successfully used as treatment for refractory CME in uveitis, retinal dystrophies, and autoimmune retinopathies. This article reports, for the first time, the long-term resolution of refractory CME in RP with IV tocilizumab.

Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis

PurposeLeber congenital amaurosis (LCA) is a group of early-onset retinal degenerative disorders, resulting in blindness in children. This study aimed to describe the clinical and genetic characteristics of a cohort of patients with LCA and to investigate the retinal vascular characteristics in LCA patients.MethodsFifty-two children with LCA were included in the study. All patients underwent detailed ocular examinations. Electroretinography (ERG) was used to evaluate the retinal function. Optical coherence tomography (OCT) was used to assess the structure change of the retina for those patients who were able to cooperate very well. Panel-based next-generation sequencing was performed to identify pathogenic variants in genes associated with LCA. Diameters of the retinal vessels were measured using the EVision AI screening system with an artificial intelligence (AI) technique. An ultrasound Doppler was used to evaluate hemodynamic parameters, including peak systolic velocity (PSV), resistive index (RI), and pulsatility index (PI), in the ophthalmic, central retinal, posterior ciliary, carotid, and internal carotid as well as external carotid arteries in 12 patients aged from 3 to 14 years.ResultsWe detected 75 pathogenic variants from ten genes of RPGRIP1, CEP290, GUCY2D, LCA5, AIPL1, CRB1, RPE65, CRX, RDH12, and TULP1, including 29 novel and 36 previously reported variants in 52 affected children with LCA, with the highest detective rate in RPGRIP1 (26.9%). Fundus appearance is diverse in patients with LCA, ranging from normal to severe peripheral or central retinopathy. Retinal vasculature was evaluated in 12 patients with different gene variants, showing narrowed arteries with an average diameter of 43.6 ± 3.8 μm compared to that of 51.7 ± 2.6 μm in the normal controls (P < 0.001, n = 12). Meanwhile, their hemodynamic parameters were changed as well in the ophthalmic artery (OA), with a decreased PSV (P = 0.0132, n = 12) and slightly increased PI (P = 0.0488, n = 12) compared to the normal controls. However, the hemodynamic parameters did not change significantly in the other vessels.ConclusionsBlood supply to the eyeball is predicted to be reduced in patients with LCA, presumably due to photoreceptor cell degeneration. The novel identified variants will expand the spectrum of variants in LCA-related genes and be useful for studying the molecular mechanisms of LCA.

IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History

To describe the clinical and genetic features, and explore the natural history of retinopathy associated with IQCB1 variants in children and adults with retinopathy. Retrospective cohort study at a single tertiary care referral center. The study recruited 19 patients with retinopathy, harboring likely disease-causing variants in IQCB1. Demographic data and clinical presentation, best corrected visual acuity (BCVA), fundus appearance, optical coherence tomography (OCT) and autofluorescence features, electroretinography (ERG) and molecular genetics are reported. Ten patients had best corrected visual acuity better than 1.0 LogMAR, and BCVA remained stable till the last review. Seven patients had a vision of hand movements or worse in at least one eye at presentation. There was no correlation found between age of onset and severity of vision loss. Nine patients (47.4%) had a diagnosis of end-stage renal failure at presentation. The other 10 patients (52.6%) had a diagnosis of non-syndromic IQCB1-retinopathy and maintained normal renal function until the last follow-up. The mean age at diagnosis of renal failure was 26.3 ±19.8 years. OCT showed ellipsoid zone (EZ) disruption with foveal sparing in 8/13 patients. All patients had stable OCT findings. Full-field ERGs in four adults revealed a severe cone-rod dystrophy and three children had extinguished ERGs. We identified 17 IQCB1 variants, all predicted to cause loss of function. IQCB1-retinopathy is a severe early-onset cone-rod dystrophy. The dissociation between severely decreased retinal function and relative preservation of retinal structure over a wide age window makes the disease a candidate for gene therapy.

Highlighting hypertriglyceridemia with a case of lipemia retinalis

Severe hypertriglyceridemia can transiently cause the appearance of a salmon-colored fundus with creamy vessels which is known as lipemia retinalis

Homonymous Quadrantanopia as the First Manifestation of Cerebral Infarction: A Case Report

Abstract&#x0D; Introduction : Homonymous quadrantanopia, a visual impairment caused by lesions in the occipital lobe is typically due to vascular or traumatic injuries with tumors, abscesses, demyelination, or toxic substances in the white matter in rarer cases. Cerebral infarction in the occipital lobe is often diagnosed by ophthalmologists since initial symptoms involve visual disturbances without neurological symptoms.&#x0D; Case Illustration : A 52-year-old woman complained visual disturbance in the upper left visual field. Ophthalmologic examination showed normal visual acuity (6/6), pupillary response, and fundus appearance. The patient had history of hypertension for the past three years. Laboratory findings revealed hypercholesterolemia (240 mg/dl) and increased fasting blood sugar levels (102 mg/dl). A Brain CT scan identified infarction in the right occipital lobe and perimetry revealed left superior homonymous quadrantanopia.&#x0D; Discussion : The left superior homonymous quadrantanopia is caused by an infarction in the inferior calcarine of the occipital lobe due to the occlusion of a branch of the posterior cerebral artery. Atherosclerotic factors, such as hypertension, dyslipidemia, and hyperglycemia, are identified as the main causes of this condition. Normal pupillary responses and optic nerve appearance distinguish visual impairment caused by anterior lesions of the lateral geniculate body. Larger infarcts of the occipital lobe may result in neurological symptoms such as migraine with aura and visual hallucinations.&#x0D; Conclusion : The clinical manifestation of homonymous quadrantanopia should emphasizes the importance of ophthalmologic examinations, laboratory tests, perimetry, and imaging to estimate the location and etiology of the lesion.

LHON spectrum disorder: Phenotype and genes

Leber hereditary optic neuropathy (LHON) is an inherited optic neuropathy primarily affecting young male with subacute bilateral visual loss. Clinically it is characterized by central scotoma, discromatopsia, and usually permanent central visual loss.This disease has a typical optic disc appearance at fundus examination of pseudoedema and microangiopathy which characterize the asymptomatic and subacute phases of the disease. Optic disc atrophy follows in the chronic phase.When the disease manifests, the preferential involvement of papillomacular fibres and macular retinal ganglion cell (RGC) damage are evident. These clinical features combined with the ophthalmoscopic pattern create the framework that make the disease unique.Primary point mutations of mitochondrial DNA (mtDNA) have been described as the genetic cause of the disease in about 90% of cases. Recently, new autosomal recessive DNA mutations have been reported in patients affected by subacute visual loss associated with a clinical picture resembling LHON.We herein describe the phenotype of 6 patients in which whole‐exome sequencing identified variants in the MECR gene in 2 probands of the same pedigree, in the NDUFAF4 gene in one patient, and mutation in the nuclear gene DNAJC30 in 3 patients. The 3 male probands with DNAJC30 mutation presented the typical LHON clinical picture with subacute loss of vision at an adult age in 2 cases and at a childhood age in one case. The pattern of visual loss with central scotoma and discromatopsia was associated with pseudoedema and microangiopathy at fundus appearance. Optical coherence tomography (OCT) analysis showed in both acute and asymptomatic family members the swelling of fibres while in the dynamic and chronic stages a progressive thinning of fibres. Visual recovery was detected in the younger patient and, partially, in one of adult patient.The 3 other patients carrying the MECR and NDUFAF4 gene variants showed a particular course of the disease characterized by a childhood onset of visual loss followed by a recurrence of visual loss at an adult age. The childhood onset was insidious in one case and subacute in the other 2 cases (about 6 years of age).OCT analysis demonstrated in the insidious case the temporal thinning of fibres and the macular RGC atrophy followed by swelling of fibres during the recurrence.In the differential diagnosis of inherited optic neuropathies with clinical presentation resembling LHON we should take into consideration the recessive form with mutations in the DNAJC30 gene which appears to overlap the mtDNA LHON disease. Moreover, clinical patterns resembling LHON with recurrence of visual loss represent another form of LHON with unique clinical presentation associated with variants in the MECR and the NDUFAF4 genes. These new clinical and genetic patterns enlarge the spectrum of LHON disease.

Retinal oximetry in vascular diseases

Retinal oximetry imaging of retinal blood vessels measures oxygen saturation of haemoglobin. The imaging technology is non‐invasive and reproducible with remarkably low variability on test–retest studies and in healthy cohorts. Pathophysiological principles and novel biomarkers in several retinal diseases have been discovered, as well as possible applications for systemic disease. The aim of this presentation is review of state of the art knowledge of us of retinal oximetry in vascular diseases and its possible clinical application.In diabetic retinopathy, retinal venous oxygen saturation is elevated and arteriovenous difference progressively reduced in advanced stages of retinopathy compared with healthy persons. This correlates with pathophysiology of diabetic retinopathy where hypoxia stimulates VEGF production. Laser treatment and vitrectomy both improve retinal oximetry values, which correlate with clinical outcome. The oximetry biomarker may allow automatic measurement of severity of diabetic retinopathy and predict its response to treatment.Central retinal vein occlusion is characterized by retinal hypoxia, which is evident in retinal oximetry. The retinal hypoxia seen on oximetry correlates with the extent of peripheral ischemia, visual acuity and thickness of macular oedema. This biomarker may help diagnose and measure severity of vein occlusion and degree of retinal ischemia.Retinal oxygen metabolism is altered in uveitis associated with VKH disease. Oxygen saturation profile is abnormal in acute uveitic phase of the disease and returns to normal in those who recover with normal fundus appearance, but not in eyes that suffer permanent anatomical damage with “sunset glow fundus” and chorioretinal atrophy. Retinal oximetry may be of value in evaluating vascular and metabolic aspects of posterior uveitis.

A review of retinal vessel segmentation for fundus image analysis

The fundus is the only region where arteries, veins and capillaries can be directly observed. Morphological changes of retinal vessels in the fundus are signals for the appearance of many fundus and cardiovascular diseases. Consequently, the segmentation of retinal vessels is crucial for diagnosing and screening various diseases. In recent years, a large amount of research publications has been published on retinal vessel segmentation. This paper offers a comprehensive review of retinal vessel automatic segmentation research, covering both traditional methods and deep learning methods, including unsupervised and supervised learning methods. Especially, the supervised learning methods are summarized and analyzed from three aspects: traditional CNN-based, GAN-based, and UNet-based methods. This paper also presents an overview of the development of retinal vessel automatic segmentation and analyzes the advantages and disadvantages of existing segmentation methods. The results are shown in two at-a-glance tables. Finally, our work provides a faster and better look to recognize and understand the field of retinal vessel segmentation.

Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5.

Occult macular dystrophy (OMD) is the most prevalent form of macular dystrophy in East Asia. Beyond RP1L1, causative genes and mechanisms remain largely uncharacterised. This study aimed to delineate the clinical and genetic characteristics of OMD syndrome (OMDS). Patients clinically diagnosed with OMDS in Japan, South Korea, and China were enrolled. The inclusion criteria were as follows: (1) macular dysfunction and (2) normal fundus appearance. Comprehensive clinical evaluation and genetic assessment were performed to identify the disease-causing variants. Clinical parameters were compared among the genotype groups. Seventy-two patients with OMDS from fifty families were included. The causative genes were RP1L1 in forty-seven patients from thirty families (30/50, 60.0%), CRX in two patients from one family (1/50, 2.0%), GUCY2D in two patients from two families (2/50, 4.0%), and no genes were identified in twenty-one patients from seventeen families (17/50, 34.0%). Different severities were observed in terms of disease onset and the prognosis of visual acuity reduction. This multicentre large cohort study furthers our understanding of the phenotypic and genotypic spectra of patients with macular dystrophy and normal fundus. Evidently, OMDS encompasses multiple Mendelian retinal disorders, each representing unique pathologies that dictate their respective severity and prognostic patterns.

Preliminary research of the clinical pathways of glaucomatous optic nerve damage in cases with glaucomatocyclitic crisis: A retrospective study.

To investigate the clinical pathways via which the glaucomatous optic nerve damage (GOND) occurred in cases with glaucomatocyclitic crisis (also called Posner-Schlossman syndrome, PSS). A retrospective study was conducted, 59 PSS patients with confirmed GOND were screened out from 190 PSS cases and followed up for a period of 5 ± 3.3 years. Clinical data were retrospectively analyzed systematically and dynamically, including intraocular pressure and its dynamic change, appearance of fundus, visual field and the state of anterior chamber angle in initial and later period during the episodes and intermission of PSS. Based on the clinical data, a classification and standard for the clinical pathways of GOND were established, and the clinical pathway of GOND in each patient was classified accordingly. There are at least 4 clinical pathways of GOND in PSS patients, namely: Type A: GOND was simply caused by the accumulation effect of high IOP during many attacks of PSS itself. Type B: GOND was resulted from the combined action of PSS itself and another type of secondary open-angle glaucoma. The recurrent inflammation during the episodes of PSS damaged the trabecular meshwork, which can cause elevation of IOP during the intermission of PSS. Type C: PSS combined with primary open angle glaucoma (POAG). Type D: PSS combined with primary angle-closure glaucoma (PACG). Base on the clinical gateways of GOND classification above, the cases of type A, B, C, and D were 27, 6, 19, and 7 respectively. The staging of visual field damage in cases with GOND from different clinical pathways showed a significant difference (Person chi-square χ2 test, χ2 = 7.211, P = .007). There are at least 4 clinical pathways of GOND in PSS patients, and each clinical pathway corresponds to different clinical features and different treatment principles. It is extremely important to correctly discriminate the pathways of GOND in PSS patients.

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

BackgroundCommon 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. ObjectiveTo report a case of punctate inner choroidopathy in a patient with common variable immunodeficiency. Case presentationA 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. ConclusionAutoimmunity 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.

Comparing the Optical Coherence Tomography Outcomes of Intravitreal Injection Anti Vascular Endothelial Growth Factor in Branch Retinal Vein Occlusion (BRVO)

Background: BRVO is a blockage of the branches of the retinal vein due to a thrombus. The prevalence of 10-year BRVO is 1.6 per 100 subjects. The effect of anti-VEGF injection on BRVO management is effective in improving visual acuity and reducing macular oedema.&#x0D; Case presentation: A man, 32 years old, presented to the ophthalmology clinic at the Dr. M. Djamil General Hospital with a chief complaint of blurred vision in his left eye 1 week before admission. The blurred vision began suddenly. Visual acuity in LE was 20/50 and did not advance with a pinhole. Funduscopic examination of LE showed clear media, rounded papillae with well-defined borders, blood vessels aa:vv = 1:3, venous tortuosity (+) increased in the inferotemporal quadrant; retina: Bleeding (+) with dot blot and flame-shaped inferiorly, exudate (+) cotton wool spots at the inferotemporal region; foveal reflex (+)↓ on the macula. OCT LE examination showed macular intraretinal hypo-reflection and macular thickening with a central macular thickness of 617 μm. The physical examination showed a body weight of 114.9 kg, a height of 173 cm, and a body mass index of 38.4. Within 5 months after 3 times administrations of intravitreal injections of anti-VEGF bevacizumab and ranibizumab, visual acuity of LE: 20/25 was obtained, and increased appearance of the retinal fundus and OCT LE.&#x0D; Conclusion: Intravitreal injection therapy of anti-VEGF bevacizumab and ranibizumab is effective in reducing macular oedema and restoring visual acuity in BRVO.

Effects of Gold Nanoparticles Phytoreduced with Rutin in an Early Rat Model of Diabetic Retinopathy and Cataracts.

Diabetic retinopathy (DR) and cataracts (CA) have an early onset in diabetes mellitus (DM) due to the redox imbalance and inflammation triggered by hyperglycaemia. Plant-based therapies are characterised by low tissue bioavailability. The study aimed to investigate the effect of gold nanoparticles phytoreduced with Rutin (AuNPsR), as a possible solution. Insulin, Rutin, and AuNPsR were administered to an early, six-week rat model of DR and CA. Oxidative stress (MDA, CAT, SOD) was assessed in serum and eye homogenates, and inflammatory cytokines (IL-1 beta, IL-6, TNF alpha) were quantified in ocular tissues. Eye fundus of retinal arterioles, transmission electron microscopy (TEM) of lenses, and histopathology of retinas were also performed. DM was linked to constricted retinal arterioles, reduced endogen antioxidants, and eye inflammation. Histologically, retinal wall thickness decreased. TEM showed increased lens opacity and fibre disorganisation. Rutin improved retinal arteriolar diameter, while reducing oxidative stress and inflammation. Retinas were moderately oedematous. Lens structure was preserved on TEM. Insulin restored retinal arteriolar diameter, while increasing MDA, and amplifying TEM lens opacity. The best outcomes were obtained for AuNPsR, as it improved fundus appearance of retinal arterioles, decreased MDA and increased antioxidant capacity. Retinal edema and disorganisation in lens fibres were still present.