When the picture masks the diagnosis - an atypical and severe giant cell arteritis case report.

PURPOSE: To describe an atypical and severe case of Giant Cell Arteritis (GCA). METHODS: Case report description. RESULTS: We report the case of a 76-year-old male who presented with severe and progressive bilateral visual loss. Upon presentation at the ophthalmology emergency room, the patient's right eye (OD) displayed aqueous flare, hyphema, rubeosis iridis, and dense posterior capsular opacification. After YAG laser capsulotomy, vitreous densifications, intraretinal hemorrhages, cotton wool spots, retinal ischemia and vasculitis were observed in the fundoscopy. The patient's left eye (OS) also presented intraretinal hemorrhages and cotton wool spots around the temporal arcades. The diagnostic workup excluded infectious diseases, demyelinating diseases, and ocular ischemic syndrome due to carotid obstruction. Proteinogram revealed a monoclonal gammopathy, suggesting a possible hematologic condition. High-dose corticotherapy was initiated, which improved the vitreous densifications and enabled the visualization of a OD pale optic disc. The remaining study did not confirm the diagnosis of hematologic disease. During follow-up, bilateral visual acuity deteriorated, with development of progressive pallor in the OS optic disc. Follow-up fluorescein angiography demonstrated progressive retinal and choroidal ischemia. Finally, due to high clinical suspicion, temporal artery doppler ultrasound was performed, confirming the diagnosis of GCA. CONCLUSION: GCA may present multiple ocular features. The knowledge of these different presentations, including retinal and choroidal ischemia or uveitis, is critical for timely diagnosis and treatment initiation. Since patients with GCA often present with vision loss, ophthalmologists may be the first medical doctors that contact with these patients, being on the frontline of GCA diagnosis.

Long-Term Effect of Anti-Vascular Endothelial Growth Factor (Anti-VEGF) Injections in Choroidal Neovascularization Secondary to Angioid Streaks.

Purpose: This study aimed to evaluate the long-term effectiveness of intravitreal anti-vascular endothelial growth factor (VEGF) injections in the treatment of choroidal neovascularization (CNV) associated with angioid streaks. Methods: Multicenter retrospective cohort study, including eyes with CNV secondary to angioid streaks treated with anti-VEGF injections, were performed. Best-corrected visual acuity (BCVA) in ETDRS letters; qualitative and quantitative (foveal thickness) OCT parameters; anti-VEGF type; and number of injections were collected at baseline and at 3, 6, 12, 24, 36, 48, 60, and 72 months. Results: Thirty-nine eyes from 29 patients, 17 (58.6%) females, were included. The mean follow-up time was 69.4 ± 34.5 months. BCVA was 59.3 ± 23.3 letters at baseline and 63.7 ± 21.9 letters at 48 months. At 3 months, BCVA improved 6.9 ± 11.7 letters (P=0.003). Then, BCVA remained stable. The mean foveal thickness decreased from 343.3 ± 120.2 µm at baseline to 268.3 ± 65.4 at 48 months (P=0.021). The mean number of injections was 4.6 ± 2.1 at 12 months, decreasing to 1.7 ± 2.4 injections between 36 and 48 months (P=0.093). Conclusion: This real-world study suggests that the functional and morphologic response to anti-VEGF therapy for CNV related to angioid streaks is generally satisfactory and maintained in the long term.

Effect of Prior Phacoemulsification Surgery in Trabeculectomy Surgery Outcomes.

PURPOSE: To evaluate whether previous clear-cornea phacoemulsification surgery affects the surgical outcomes of trabeculectomy in open-angle glaucoma (OAG). METHODS: We performed a retrospective cohort study, which included 82 patients with OAG that underwent trabeculectomy between January 1, 2010, and December 31, 2017. The primary outcome was the probability of surgical failure. Failure was defined as IOP >21 mmHg or reduced <20% from baseline, IOP ≤5 mmHg in three consecutive visits, need for further glaucoma surgery, phthisis or loss of light perception vision due to glaucoma. RESULTS: Eighty-two eyes (58 phakic and 24 pseudophakic) were included. Phakic group patients were younger than those in the pseudophakic group, 65.8 ± 11.7 vs 76.2 ± 7.9 years (p < 0.001). The most common type of glaucoma was primary OAG [59% (n = 34) phakic vs 63% (n = 15) pseudophakic], followed by exfoliative and pigmentary glaucomas. The mean preoperative IOP was not significantly different between groups nor was the number of preoperative hypotensive medications. The rate of surgical failure was not significantly different between groups at year 1 [17% (n = 10) phakic vs 29% (n = 7) pseudophakic; p = 0.361] nor at year 2 [28% (n = 16) phakic vs 46% (n = 11) pseudophakic; p = 0.110]. No significant differences were observed regarding the postoperative IOP or any secondary outcome measures at year 1 or 2. CONCLUSION: Previous clear-cornea phacoemulsification surgery does not lead to statistically significant differences in the rate of trabeculectomy failure. Despite not being significant, clinically relevant differences were observed between groups. Future studies with a larger sample and/or randomized are needed to clarify this association.

Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant.

PURPOSE: To describe the clinical, electrophysiological, and genetic findings of three Portuguese families with a rare variant in the KCNV2 gene resulting in "cone dystrophy with supernormal rod responses" (CDSRR). METHODS: Retrospective clinical revision of five individuals from three unrelated families with CDSRR. Ophthalmological examination was described in all patients and included color vision testing, fundus photography, fundus autofluorescence (FAF) imaging, spectral domain-optical coherence tomography (SD-OCT), pattern electroretinogram (ERG), and full-field ERG. The mutational screening of the KCNV2 gene was performed with Sanger and Next Generation Sequencing. RESULTS: All patients showed childhood-onset photophobia and progressive visual acuity loss with varying degrees of severity. In multimodal imaging, various degrees of retinal pigment epithelium disturbances and outer retinal atrophy, which tend to be worst with advancing age, were observed. Molecular screening identified a rare presumed truncating variant (p.Glu209Ter) in homozygosity in two families and in compound heterozygosity in a third family. Three patients showed ERG changes characteristic of CDSRR, however, two patients presented with incomplete electrophysiological features of the disease. CONCLUSION: A rare variant in the KCNV2 gene was identified in five patients from three Portuguese families. This variant often leads to a severe and progressive form of retinopathy. Considerable variability in the ERG responses among patients with this KCNV2 variant was observed.

Long term outer retinal changes in central serous chorioretinopathy submitted to half-dose photodynamic therapy.

PURPOSE: To evaluate long-term changes in the foveal and parafoveal outer retina after half-dose photodynamic therapy (HD-PDT) in central serous chorioretinopathy (CSC). METHODS: Retrospective study including CSC patients submitted to HD-PDT. Best corrected visual acuity (BCVA) was evaluated. Spectral-domain optical coherence tomography automatic segmentation algorithm was used and data on retinal, inner retinal, outer retinal and outer nuclear layers (ONL) in both foveal 1 mm (C) and parafoveal 3 mm ETDRS circles for the superior, nasal, inferior and temporal sectors, were obtained at baseline and 3, 12 and 24 months post-treatment. Subfoveal choroidal thickness, photoreceptors' outer segment thickness, subretinal fluid (SRF) height and width were also measured. RESULTS: Twenty-one eyes of 15 patients were included. At baseline, the mean ONL thickness in the foveal area was significantly thinner in affected eyes compared to their fellow unaffected ones (55,50 ± 32,75 µm vs 93,00 ± 17,0 µm; p = 0,011), and was negatively correlated to logMAR BCVA (R=-0,601, p = 0,008) ONL thickness increased by 10,94 ± 11,88 µm at 24 months in the foveal area, and all the parafoveal sectors presented a similar increase. Baseline SRF width was significantly correlated with baseline BCVA (R1 = 0,483, p = 0,036), and with ONL thickness in all sectors. CONCLUSION: In our study we found a significant long-term increase in foveal and parafoveal ONL thickness in CSC after HD-PDT, suggesting that this seems to be a safe treatment for the outer retina. This is the first study mapping the outer retinal changes in the macular area to 24 months follow up.

Incidence of endophthalmitis after intravitreal injection with and without topical antibiotic prophylaxis.

PURPOSE: The purpose was to compare the incidence of endophthalmitis after intravitreal injection with and without topical antibiotic prophylaxis. METHODS: This is a single-center, retrospective case-control study. All patients treated with intravitreal injection of ranibizumab, bevacizumab, aflibercept, or corticosteroids for a variety of retinal vascular diseases between 1 October 2014 and 30 November 2018 were included. The total number of patients and injections were determined from a review of billing code and practice management records. Endophthalmitis cases were determined from billing records and then confirmed with chart review. A 24-month period when topical antibiotics were prescribed after intravitreal injection was compared with a 24-month period when topical antibiotics were not prescribed. RESULTS: Between 1 October 2014 and 30 November 2018, a total of 33,515 intravitreal injections were performed and 13 cases of post-intravitreal injection endophthalmitis were identified (incidence rate of 0.0388%; 95% confidence interval, 0.0217%-0.0644%) or approximately 1 case for every 2578 intravitreal injections. Between 1 October 2014 and 31 October 2016, while topical antibiotic prophylaxis was used postoperatively, 14,828 intravitreal injections were performed and 5 cases of endophthalmitis were reported (0.0337%; 95% confidence interval, 0.0129%-0.0739%). Between 1 November 2016 and 30 November 2018, while no prophylaxis was used, 18,687 intravitreal injections were performed and 8 cases of endophthalmitis were identified (0.0428%; 95% confidence interval, 0.0202%-0.0808%). There were no statistical differences in the incidence rates between the two groups (p = 0.675). CONCLUSION: The incidence rate of endophthalmitis in the group with topical antibiotic prophylaxis after intravitreal injection was similar to the group with no prophylaxis. Changing the current clinical practice to no antibiotic prophylaxis had no effect on the incidence of endophthalmitis.

A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens.

BACKGROUND: Retinitis punctata albescens is a form of retinitis pigmentosa characterized by white fleck-like deposits in the fundus, in most cases caused by pathogenic variants in RLBP1 gene. The purpose of this work is to report the phenotypic and genotypic data of a patient with retinitis punctata albescens carrying a deletion in the RLBP1 gene. RESULTS: An 8-year-old Caucasian female has been complaining of nyctalopia for the last 2 years. No other ocular symptoms were present. No relevant past medical or familiar history was described. At clinical examination, the patient's best-corrected visual acuity was 20/20 in both eyes. Anterior segment evaluation and intraocular pressure were normal in both eyes. At fundoscopy, multiple punctate whitish-yellow fleck-like lesions were observed in the proximity of temporal superior and inferior vascular arcades. Scotopic electroretinogram demonstrated severely reduced rod response, without improvement or recovery of rod system function after prolonged dark adaptation. Blood DNA samples of this patient and from her parents were screened for causal variants in RLBP1, RDH5, and PRPH2. CONCLUSION: A probable pathogenic frameshift variant was identified in homozygosity in the RLBP1 gene with an autosomal recessive transmission as another cause of retinitis punctata albescens. This DNA variant will aid ongoing functional studies and add to our understanding of the molecular pathology about RLBP1-associated retinopathies.

SARS-COV-2 in Ophthalmology: Current Evidence and Standards for Clinical Practice.

INTRODUCTION: COVID-19 is caused by the coronavirus SARS-CoV-2. Ocular manifestations have been reported including conjunctivitis and retinal changes. Therefore, it is of the utmost importance to clarify eye involvement in COVID-19 in order to help with its diagnosis and to further prevent its transmission. The purpose of this review is to describe the structure and transmission of SARS-CoV-2, reported ocular findings and protection strategies for ophthalmologists. MATERIAL AND METHODS: Literature search on PubMed for relevant articles using the keywords 'COVID-19', 'coronavirus', and 'SARS-CoV-2' in conjunction with 'ophthalmology' and 'eye'. Moreover, official recommendations of ophthalmological societies were reviewed. RESULTS: Although the conjunctiva is directly exposed to extraocular pathogens, and the mucosa of the ocular surface and upper respiratory tract are connected by the nasolacrimal duct, the eye is rarely involved in human SARS-CoV-2 infection and the SARS-CoV-2 RNA positive rate by RT-PCR test in tears and conjunctival secretions from patients with COVID-19 is also extremely low. DISCUSSION: The eye can be affected by SARS-CoV-2, which is supported by some reports of conjunctivitis and retinal changes, but its role in the spread of the disease is still unknown. CONCLUSION: Given the current scarce evidence, more research is needed to clarify the relationship between SARS-CoV-2 and the eye.

Introdução: COVID-19 é o nome atribuído à doença causada pelo novo coronavírus - SARS-CoV-2. Esta infeção rapidamente atingiu uma disseminação mundial, face ao aumento da globalização e adaptação do vírus a ambientes distintos. Foram descritas manifestações oftalmológicas em doentes com COVID-19, nomeadamente, conjuntivite e alterações retinianas. Assim, é fundamental esclarecer o envolvimento ocular na COVID-19, contribuindo para o seu diagnóstico precoce e limitando a sua transmissão. O objetivo desta revisão é descrever a estrutura e o modo de transmissão do SARS-CoV-2, assim como manifestações oculares reportadas e estratégias de proteção para oftalmologistas. Material e Métodos: Revisão dos artigos relevantes publicados na PubMed usando as palavras-chave 'COVID-19', 'coronavirus' e 'SARS-CoV-2' em associação com as palavras 'ophthalmology' e 'eye'. Além disso, foi feita uma revisão das recomendações oficiais de várias sociedades oftalmológicas a nível mundial. Resultados: Apesar da conjuntiva estar diretamente exposta a patógenos exógenos, e da mucosa da superfície ocular e do trato respiratório superior estarem conectados pelo canal nasolacrimal, o olho raramente parece ser afetado pelo SARS-CoV-2. A infeção por SARS-CoV-2 e a taxa de positividade para a pesquisa do RNA do SARS-CoV-2 pelo teste de RT-PCR em lágrimas e secreções conjuntivais de pacientes com COVID-19 também são extremamente baixas. Discussão: O olho pode ser afetado pelo SARS-CoV-2, dada a descrição de casos de conjuntivite e alterações retinianas, mas o seu papel na disseminação da doença ainda é desconhecido. Conclusão: Dada a escassa evidência atual, são necessários mais estudos para esclarecer a relação entre o SARS-CoV-2 e o globo ocular.

Cytokines and Growth Factors as Predictors of Response to Medical Treatment in Diabetic Macular Edema.

Diabetic macular edema (DME) is the most common cause of visual loss in patients with diabetes. Antivascular endothelial growth factors (anti-VEGF) agents are first-line therapy for DME. Nevertheless, up to 60% of patients (depending on the anti-VEGF drug used) have an inadequate response to anti-VEGF treatment. Several cytokines are increased in aqueous humor of patients with DME. Differences in response to treatment may be related to baseline cytokine levels. Intravitreal corticosteroids may be used as an alternative to anti-VEGF agents. Steroids have a different pharmacological profile and act on different pathophysiologic mechanisms. Their effect on aqueous humor cytokines is different from the effect of anti-VEGF therapy. This review highlights the major cytokines involved in DME and evaluates whether baseline cytokine levels could be predictors of response to treatment in DME. SIGNIFICANCE STATEMENT: Antivascular endothelial growth factor (anti-VEGF) agents are efficient as diabetic macular edema (DME) treatment. However, in some cases, DME fails to respond to anti-VEGF intravitreal injections. Changes in cytokine levels after treatment supported the idea that other cytokines than VEGF are implicated in DME pathogenesis and could be predictors of response to anti-VEGF treatment or corticosteroids allowing targeted and individualized therapy guided by cytokine levels.

Idiopathic Acute Exudative Polymorphous Vitelliform Maculopathy: Insight into Imaging Features and Outcomes.

The authors describe imagiological findings in idiopathic exudative polymorphous vitelliform maculopathy. A 41-year-old woman complained of bilateral blurry vision. Best-corrected visual acuity was 20/20 bilaterally. Bilateral small serous neurosensory detachments in the fovea were seen at fundoscopy and confirmed by spectral-domain optical coherence tomography. Fluorescein angiography was unremarkable. Indocyanine green angiography presented discrete hyperfluorescent spots on the posterior pole. Later, more bleb-like lesions with a vitelliform appearance and hyperautofluorescent on blue fundus autofluorescence were detected. One year later, a complete resolution of the fluid was observed. To conclude, multimodal evaluation of patients with idiopathic exudative polymorphous vitelliform maculopathy is essential for the correct diagnosis of this disease.