scholarly journals Spectrum of ocular manifestations and visual outcomes of neurosyphilis among 53 patients

2021 ◽  
Vol 79 (7) ◽  
pp. 584-589
Author(s):  
Tatiana Vaz Leite Pinto ◽  
Antônio Pereira Gomes Neto ◽  
Matheus Nader Cunha ◽  
Letícia Moreira Bernardino ◽  
Paulo Pereira Christo
Keyword(s):  
Visual Acuity ◽  
Optic Neuritis ◽  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Ocular Involvement ◽  
Ocular Syphilis ◽  
Ocular Manifestations ◽  
Hiv Coinfection ◽  
Belo Horizonte ◽  
Treatable Condition

ABSTRACT Background: In the era of the re-emergence of syphilis, ocular syphilis has gained attention because its prevalence has increased and it can cause blindness and disability. Objectives: To investigate the clinical presentation and prognosis of ocular syphilis. Methods: Prospective study on 53 patients (90 eyes) with ocular syphilis diagnosed at the Santa Casa of Belo Horizonte, Brazil. The diagnosis was based on clinical manifestations of the disease and on serological markers (positive serum treponemal and non-treponemal tests or two positive treponemal tests). Results: Thirty-five eyes (66%) were from men and the mean age was 45.3 ± 12.0 years. HIV coinfection was confirmed in 10 patients (18.9%). Forty-four (84.9%) had VDRL titers ≥ 1:32. Bilateral ocular involvement occurred in 68%. Optic neuritis was diagnosed in 51.7% of the eyes and uveitis in 48.2%. Regarding visual acuity, the median baseline logarithm of the minimum angle of resolution (logMAR) was 1 (20/200 Snellen), while after antibiotic therapy, the median was 0.2 (20/30 Snellen). Poor visual acuity after treatment, defined as the best-corrected visual acuity (BCVA; logMAR 1; 20/200 Snellen) or worse, was associated with severe BCVA at presentation (below logMAR 1.3; 20/400 Snellen) (p = 0.001) and age over 50 years (p = 0.001). Conclusions: This study confirms the wide spectrum of clinical manifestations of ocular syphilis. The most frequent form was optic neuritis, an important differential diagnosis from other causes of inflammatory neuritis. Early diagnosis is essential, given that this is a treatable condition with excellent visual recovery in most cases.

scholarly journals Current concepts in the diagnosis and management of antiphospholipid syndrome and ocular manifestations

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Gunay Uludag ◽  
Neil Onghanseng ◽  
Anh N. T. Tran ◽  
Muhammad Hassan ◽  
Muhammad Sohail Halim ◽  
...  
Keyword(s):  
Antiphospholipid Syndrome ◽  
Antiphospholipid Antibodies ◽  
Clinical Manifestations ◽  
Autoimmune Disorder ◽  
Ocular Involvement ◽  
Ocular Manifestations ◽  
Different Types ◽  
Thrombotic Complications ◽  
Specific Factors ◽  
Arteries And Veins

AbstractAntiphospholipid syndrome (APS) is an autoimmune disorder associated with obstetrical complications, thrombotic complications involving both arteries and veins, and non-thrombotic manifestations affecting multiple other systems presenting in various clinical forms. Diagnosis requires the presence of antiphospholipid antibodies. The exact pathogenesis of APS is not fully known. However, it has recently been shown that activation of different types of cells by antiphospholipid antibodies plays an important role in thrombosis formation. Ocular involvement is one of the important clinical manifestations of APS and can vary in presentations. Therefore, as an ophthalmologist, it is crucial to be familiar with the ocular findings of APS to prevent further complications that can develop. Furthermore, the ongoing identification of new and specific factors contributing to the pathogenesis of APS may provide new therapeutic options in the management of the disease in the future.

scholarly journals Bilateral neurorethinovasculitis associated with COVID-19 infection in a girl 17 years old

2021 ◽  
Vol 16 (2) ◽  
pp. 41-52
Author(s):  
Ekaterina Denisova ◽  
E. N Demchenko ◽  
Elizaveta A. Geraskina ◽  
Mariia A. Khrabrova ◽  
Anna Y. Panova
Keyword(s):  
Optic Neuritis ◽  
Clinical Symptoms ◽  
Clinical Manifestations ◽  
Vascular Thrombosis ◽  
Lung Lesions ◽  
Ocular Manifestations ◽  
Ophthalmic Manifestations ◽  
Eye Damage ◽  
Coronavirus Infection ◽  
Data Frequency

Despite dominant lung lesions, new coronavirus infection (COVID-19) can influence almost any organ, including eyes. According to modern data, frequency of eye damage by COVID-19 reaches 32%, and spectrum of clinical manifestations is diverse. Changes are observed both in the anterior (mainly conjunctivitis) and posterior (mostly retinal vascular thrombosis, optic neuritis, neuroretinitis) segments of the eye, and the timing of their occurrence varies from the first (sometimes the only) clinical symptoms of the disease to the development at the peak or during the period of convalescence from COVID-19. In children symptomatic COVID-19 infection is diagnosed less frequently than in adults, and ophthalmic manifestations are less investigated. This article describes a case of bilateral neuroretinovasculitis in a 17-year-old girl with a mild course of COVID-19, that arose 3 weeks after the onset of the disease, which broadens the understanding of ocular manifestations of COVID-19 in children. We emphasize that an ophthalmologist should know ocular manifestations of COVID-19, which can help in the diagnosis and further study of the frequency and spectrum of ophthalmic symptoms, especially in children

scholarly journals Phenotypic Characteristics Associated with Virulence of Clinical Isolates from theSporothrixComplex

2015 ◽  
Vol 2015 ◽  
pp. 1-10 ◽  
Author(s):  
Rodrigo Almeida-Paes ◽  
Luã Cardoso de Oliveira ◽  
Manoel Marques Evangelista Oliveira ◽  
Maria Clara Gutierrez-Galhardo ◽  
Joshua Daniel Nosanchuk ◽  
...  
Keyword(s):  
Virulence Factors ◽  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Protease Production ◽  
Clinical Aspects ◽  
Phenotypic Characteristics ◽  
Internal Organs ◽  
Complex Species ◽  
Hiv Coinfection ◽  
The Relationship

TheSporothrixcomplex members cause sporotrichosis, a subcutaneous mycosis with a wide spectrum of clinical manifestations. Several specific phenotypic characteristics are associated with virulence in many fungi, but studies in this field involving theSporothrixcomplex species are scarce. Melanization, thermotolerance, and production of proteases, catalase, and urease were investigated in 61S. brasiliensis, oneS. globosa, and 10S. schenckiistrains. TheS. brasiliensisstrains showed a higher expression of melanin and urease compared withS. schenckii. These two species, however, presented similar thermotolerances. OurS. globosastrain had low expression of all studied virulence factors. The relationship between these phenotypes and clinical aspects of sporotrichosis was also evaluated. Strains isolated from patients with spontaneous regression of infection were heavily melanized and produced high urease levels. Melanin was also related to dissemination of internal organs and protease production was associated with HIV-coinfection. A murine sporotrichosis model showed that aS. brasiliensisstrain with high expression of virulence factors was able to disseminate and yield a high fungal burden in comparison with a controlS. schenckiistrain. Our results show that virulence-related phenotypes are variably expressed within theSporothrixcomplex species and might be involved in clinical aspects of sporotrichosis.

Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review

2020 ◽  
Author(s):  
Siddaramappa J. Patil ◽  
Shruti Pande ◽  
Jyoti Matalia ◽  
Venkatraman Bhat ◽  
Minal Kekatpure ◽  
...  
Keyword(s):  
Posterior Fossa ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Later Life ◽  
Facial Dysmorphism ◽  
Ocular Manifestations ◽  
Occipital Encephalocele ◽  
Knobloch Syndrome ◽  
Posterior Fossa Malformations ◽  
Midline Cleft

AbstractKnobloch syndrome (KS) is an autosomal recessive disorder caused by biallelic pathogenic variants in COL18A1. KS clinically manifests with the typical eye findings (high myopia, vitreoretinal degeneration, retinal detachment, and lens subluxation), variable neurological findings (occipital encephalocele, polymicrogyria, cerebellar malformations, epilepsy, and intellectual disability), and the other uncommon clinical manifestations. Literature review of all KS patients (source PubMed) was done with special reference to cerebellar abnormalities. Here, we report two siblings with typical KS with posterior fossa malformations and novel cerebellar midline cleft abnormality analyzed by whole exome sequencing. Known pathogenic homozygous variant c.2908C > T; (p.Arg970Ter) in exon 26 of COL18A1 was found as a cause for KS. These two siblings presented with early-onset severe ocular manifestations, facial dysmorphism, and variable central nervous system manifestations along with novel cerebellar midline cleft abnormality. The presence or absence of structural brain malformations and genotypes does not absolutely predict cognitive functions in KS patients. However, the presence of posterior fossa abnormality may be predictive for the development of ataxia in later life and needs further studies.

Adult systemic lupus erythematosus in Egypt: The nation-wide spectrum of 3661 patients and world-wide standpoint

Lupus ◽  
2021 ◽  
pp. 096120332110142
Author(s):  
Tamer A Gheita ◽  
Rasha Abdel Noor ◽  
Esam Abualfadl ◽  
Osama S Abousehly ◽  
Iman I El-Gazzar ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Age Of Onset ◽  
Wide Spectrum ◽  
Age At Onset ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Population Based ◽  
Systemic Lupus ◽  
Cross Sectional

Objective The aim of this study was to present the epidemiology, clinical manifestations and treatment pattern of systemic lupus erythematosus (SLE) in Egyptian patients over the country and compare the findings to large cohorts worldwide. Objectives were extended to focus on the age at onset and gender driven influence on the disease characteristics. Patients and method This population-based, multicenter, cross-sectional study included 3661 adult SLE patients from Egyptian rheumatology departments across the nation. Demographic, clinical, and therapeutic data were assessed for all patients. Results The study included 3661 patients; 3296 females and 365 males (9.03:1) and the median age was 30 years (17–79 years), disease duration 4 years (0–75 years) while the median age at disease onset was 25 years (4–75 years). The overall estimated prevalence of adult SLE in Egypt was 6.1/100,000 population (1.2/100,000 males and 11.3/100,000 females).There were 316 (8.6%) juvenile-onset (Jo-SLE) and 3345 adult-onset (Ao-SLE). Age at onset was highest in South and lowest in Cairo (p < 0.0001). Conclusion SLE in Egypt had a wide variety of clinical and immunological manifestations, with some similarities with that in other nations and differences within the same country. The clinical characteristics, autoantibodies and comorbidities are comparable between Ao-SLE and Jo-SLE. The frequency of various clinical and immunological manifestations varied between gender. Additional studies are needed to determine the underlying factors contributing to gender and age of onset differences.

scholarly journals Facial cleft? The first case of manitoba‐oculo‐tricho‐anal syndrome with novel mutations in China: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Shuchen Gu ◽  
Yimin Khoong ◽  
Xin Huang ◽  
Tao Zan
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Manifestations ◽  
Sporadic Case ◽  
Facial Cleft ◽  
Ocular Manifestations ◽  
First Case ◽  
Whole Exome ◽  
Chinese Girl ◽  
Low Prevalence

Abstract Background Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare syndrome with only 27 cases reported worldwide so far, but none was reported in the population of Eastern Asia. Such extremely low prevalence might be contributed by misdiagnosis due to its similarities in ocular manifestations with facial cleft. In our study, we discovered the first case of MOTA syndrome in the population of China, with 2 novel FRAS1 related extracellular matrix 1 (FREM1) gene stop-gain mutations confirmed by whole exome sequencing. Case presentation A 12-year-old Chinese girl presented with facial cleft-like deformities including aberrant hairline, blepharon-coloboma and broad bifid nose since birth. Whole exome sequencing resulted in the identification of 2 novel stop-gain mutations in the FREM1 gene. Diagnosis of MOTA syndrome was then established. Conclusions We discovered the first sporadic case of MOTA syndrome according to clinical manifestations and genetic etiology in the Chinese population. We have identified 2 novel stop-gain mutations in FREM1 gene which further expands the spectrum of mutational seen in the MOTA syndrome. Further research should be conducted for better understanding of its mechanism, establishment of an accurate diagnosis, and eventually the exploitation of a more effective and comprehensive therapeutic intervention for MOTA syndrome.

scholarly journals Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants

Diagnostics ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 1218
Author(s):  
Raffaella Brunetti-Pierri ◽  
Marianthi Karali ◽  
Francesco Testa ◽  
Gerarda Cappuccio ◽  
Maria Elena Onore ◽  
...  
Keyword(s):  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
Joubert Syndrome ◽  
Male Adult ◽  
Full Field ◽  
Pathogenic Variants ◽  
Disease Spectrum ◽  
Male Individual ◽  
The Central Nervous System

Pathogenic variants in the MKS1 gene are responsible for a ciliopathy with a wide spectrum of clinical manifestations ranging from Meckel and Joubert syndrome (JBTS) to Bardet-Biedl syndrome, and involving the central nervous system, liver, kidney, skeleton, and retina. We report a 39-year-old male individual presenting with isolated Retinitis Pigmentosa (RP), as assessed by full ophthalmological evaluation including Best-Corrected Visual Acuity measurements, fundus examination, Goldmann Visual Field test, and full-field Electroretinography. A clinical exome identified biallelic nonsense variants in MKS1 that prompted post-genotyping investigations for systemic abnormalities of ciliopathy. Brain magnetic resonance imaging revealed malformations of the posterior cranial fossa with the ‘molar tooth sign’ and cerebellar folia dysplasia, which are both distinctive features of JBTS. No other organ or skeletal abnormalities were detected. This case illustrates the power of clinical exome for the identification of the mildest forms of a disease spectrum, such as a mild JBTS with RP in the presented case of an individual carrying biallelic truncating variants in MKS1.

scholarly journals The clinical spectrum of ocular bartonellosis: a retrospective study at a tertiary centre in Malaysia

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Michele Shi-Ying Tey ◽  
Gayathri Govindasamy ◽  
Francesca Martina Vendargon
Keyword(s):  
Hand Movement ◽  
Clinical Findings ◽  
Common Finding ◽  
Final Visit ◽  
Ocular Involvement ◽  
Exudative Retinal Detachment ◽  
Tertiary Centre ◽  
Ocular Manifestations ◽  
Ocular Findings ◽  
Clinical Records

Abstract Background Cat scratch disease (CSD) is a systemic illness caused by the gram-negative bacillus, Bartonella henselea, which can occasionally involve the ocular structures. The objective of this study is to evaluate the various clinical presentations of ocular bartonellosis at our institution. A retrospective review of the clinical records of 13 patients (23 eyes) with ocular manifestations of Bartonella infections over a 3-year period between January 2016 to December 2018 was undertaken at our institution. Results The diagnosis was made based on clinical findings and in addition, with the support of the evidence of Bartonella hensalae IgG and/or IgM. Small retinal white lesions were the most common ocular findings in this series of patients (82.6% of eyes, 76.9% of patients). Neuroretinitis was the second most common finding (47.8% of eyes, 69.2% of patients), followed by exudative retinal detachment involving the macula (34.8% of eyes, 53.8% of patients) and Parinaud’s oculoglandular syndrome (17.4% of eyes, 23.1% of patients). Other findings like isolated optic disc oedema without macular star (8.7% of eyes, 15.4% of patients) and vitritis (4.3% of eyes, 7.7% of patients) were also observed. Ten patients (76.9%) had bilateral ocular involvement. Most of the patients were young, immunocompetent and had systemic symptoms like fever prior to their ocular symptoms. The visual acuity (VA) at initial presentation ranged from 6/6 to hand movement (mean, 6/20), and at final visit 6/6 to 6/60, (mean, 6/9). 91.7% of patients were treated with antibiotics. Only 2 patients received oral corticosteroids together with antibiotics due to very poor vision on presentation. The visual prognosis of ocular bartonellosis is generally good with 16 (88.9%) of 23 eyes having VA of 6/12 or better at final follow-up visit. Conclusion Small foci of retinal white lesions were the most common manifestation of ocular bartonellosis in this series, followed by neuroretinitis, though an array of other ocular findings may also occur. Therefore, we should consider bartonella infection as a possible differential diagnosis in those patients.

scholarly journals Ocular manifestations in Herpes Zoster Ophthalmicus

1970 ◽  
Vol 3 (2) ◽  
pp. 165-171 ◽  
Author(s):  
LR Puri ◽  
GB Shrestha ◽  
DN Shah ◽  
M Chaudhary ◽  
A Thakar
Keyword(s):  
Herpes Zoster ◽  
Young Patients ◽  
Ocular Involvement ◽  
Post Herpetic Neuralgia ◽  
Visual Disability ◽  
Herpes Zoster Ophthalmicus ◽  
Cross Sectional ◽  
Ocular Manifestations ◽  
Visual Status ◽  
The Mean

Background: Ocular complications of herpes zoster ophthalmicus (HZO) may lead to substantial visual disability, severe post-herpetic neuralgia and rarely fatal cerebral complications. Aim: To identify the pattern of ocular manifestation in herpes zoster ophthalmicus. Materials and methods: A cross-sectional descriptive study was under taken including the clinically diagnosed cases of HZO. All of them underwent a complete ophthalmological evaluation. Results: Sixty-eight cases of HZO were examined, of which 37 (54.4 %) were male and 31 (45.6%) female. The mean age was 48.7 ± 18.5 years. Most of the patients (64.7 %) were above the age of 40 years. 77.94 % of the patients had some form of ocular involvement. Pain (77.9 %) was the commonest ocular complaint. In young patients less than 35 years, HIV was the most common risk factor (19.3 %).Visual status was good in the majority (73.5 %) of patients at presentation. Lid and adnexal findings (45.8 %) were most common ocular involvement followed by conjunctivitis (41.1 %). Corneal complication was seen in 38.2 % of cases, uveitis in 19.1 % and post-herpetic neuralgia (PHN) and secondary glaucoma each in 5.8 %. Conclusion: Eyelid and ocular adnexal involvement is most commonly found in patients with herpes zoster ophthalmicus followed by corneal complication and uveitis. There needs to be awareness of ocular involvement, which can be sight threatening, among the HZO patients and other medical departments and an increased emphasis on regular ophthalmic examination. Key words: herpes virus, herpes zoster, conjunctivitis, keratitis DOI: http://dx.doi.org/10.3126/nepjoph.v3i2.5271 Nepal J Ophthalmol 2011; 3(2): 165-171

Cirrhosis and Complications of Portal Hypertension

2018 ◽  
Author(s):  
Andres Cardenas ◽  
Isabel Graupera ◽  
Elsa Sola ◽  
Pere Ginès
Keyword(s):  
Liver Transplantation ◽  
Portal Hypertension ◽  
Variceal Bleeding ◽  
Bacterial Infections ◽  
Hepatorenal Syndrome ◽  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Diagnostic Methods ◽  
Decompensated Cirrhosis ◽  
Ultrasound Images

Cirrhosis is the most advanced stage of all the different types of chronic liver diseases. It is defined as a diffuse disorganization of normal hepatic structure by extensive fibrosis associated with regenerative nodules. Hepatic fibrosis is potentially reversible if the causative agent is removed. However, advanced cirrhosis leads to major alterations in the hepatic vascular bed and is usually irreversible. Cirrhosis is a progressive and severe clinical condition associated with considerable morbidity and high mortality. It leads to a wide spectrum of characteristic clinical manifestations, mainly attributable to hepatic insufficiency and portal hypertension. Major complications of portal hypertension include ascites, gastrointestinal (GI) variceal bleeding, hepatic encephalopathy (HE), renal failure, and bacterial infections. In recent years, major advances in the understanding of the natural history and pathophysiology of cirrhosis and the treatment of its complications have led to improved management, quality of life, and life expectancy of patients with this disease. Cirrhosis is also a risk factor for developing hepatocellular carcinoma (HCC). Decompensated cirrhosis carries a poor short-term prognosis; thus, orthotopic liver transplantation (OLT) should always be considered in suitable candidates. This chapter describes the epidemiology, etiology and genetic factors, pathogenesis, diagnosis, general management, and treatment of cirrhosis. Complications of cirrhosis are discussed, including ascites, spontaneous bacterial peritonitis, dilutional hyponatremia, hepatorenal syndrome, variceal bleeding, hepatopulmonary syndrome and postpulmonary hypertension, HE, and HCC. Indications and contraindications for liver transplantation are described. Figures show liver biopsy results and ultrasound images in cirrhosis from hepatitis C, a patient with tense ascites, transjugular intrahepatic portosystemic shunting (TIPS), large esophageal varices with red spots, and HCC. Tables outline the main causes of cirrhosis and the diagnostic methods for identifying them, the Child-Pugh score, diagnostic criteria for hepatorenal syndrome, grades of HE, and indications for liver transplantation.This chapter contains 6 highly rendered figures, 8 tables, 73 references.

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