scholarly journals Neuroretinitis and Juxtapapillary Retinochoroiditis as Atypical Presentations of Ocular Toxoplasmosis

2021 ◽  
Vol Volume 14 ◽  
pp. 657-661
Author(s):  
Nelly N Kabedi ◽  
Jean-Claude Mwanza
Keyword(s):  
Ocular Toxoplasmosis ◽  
Atypical Presentations

Prevalence, Clinical Characteristics, and Causes of Vision Loss in Patients with Ocular Toxoplasmosis

2011 ◽  
Vol 21 (6) ◽  
pp. 811-819 ◽  
Author(s):  
Nikolas J.S. London ◽  
Anna Hovakimyan ◽  
Leo D.P. Cubillan ◽  
Carlos D. Siverio ◽  
Emmett T. Cunningham
Keyword(s):  
Vision Loss ◽  
Young Male ◽  
Scar Formation ◽  
Ocular Toxoplasmosis ◽  
Tertiary Referral ◽  
Tertiary Referral Center ◽  
Younger Age ◽  
The Mean ◽  
Atypical Presentations ◽  
Active Disease

Purpose. To describe the prevalence, demographics, clinical features, and contributors to vision loss at presentation in a large cohort of patients with ocular toxoplasmosis seen at a tertiary referral center in northern California. Methods. A retrospective review of the charts of 233 patients with ocular toxoplasmosis examined over 24 years. Results. Ocular toxoplasmosis was diagnosed in 233 (8.4%) of 2761 patients with uveitis. The mean age at presentation was 27.2 years. Patients with ocular toxoplasmosis were more likely to be young (p<0.01), male (p<0.001), and Latino (p<0.001) as compared with patients in the entire uveitis cohort. At presentation, 159 patients (68.2%) had active disease, which was unilateral in all but one. Among the 160 eyes with active disease, 145 (90.6%) presented with a focal retinochoroiditis, 57.2% of which had an adjacent retinochoroidal scar. Atypical presentations occurred in 11 patients (6.9%). Of eyes with active disease, the main contributors to vision loss at presentation were intraocular inflammation (74.8%) and macular involvement (24.3%), whereas in eyes with inactive lesions the main contributors to vision loss were macular scar formation (67.9%) and amblyopia (11.3%). Younger age was the single significant predictor of macular involvement. Conclusions. Ocular toxoplasmosis is a common cause of uveitis. Our patients were more likely than general uveitis patients to be young, male, and Latino, often having emigrated from Mexico or Central or South America. The most common contributors to decreased vision in eyes with active lesions were inflammation and macular involvement, whereas in eyes with inactive lesions they were macular scar formation and amblyopia.

scholarly journals An ophthalmologist survey-based study of the atypical presentations and current treatment practices of ocular toxoplasmosis in India

2011 ◽  
Vol 35 (2) ◽  
pp. 148-154 ◽  
Author(s):  
Soumyava Basu ◽  
Jyotirmay Biswas ◽  
Uwe Pleyer ◽  
Avinash Pathangay ◽  
B. Manohar Babu
Keyword(s):  
Current Treatment ◽  
Ocular Toxoplasmosis ◽  
Treatment Practices ◽  
Atypical Presentations

Atypical presentations of ocular toxoplasmosis

2002 ◽  
Vol 13 (6) ◽  
pp. 387-392 ◽  
Author(s):  
Justine R. Smith ◽  
Emmett T. Cunningham
Keyword(s):  
Ocular Toxoplasmosis ◽  
Atypical Presentations

scholarly journals Usefulness of serology in diagnosis of different clinical presentations of ocular toxoplasmosis

2020 ◽  
Vol 7 (2) ◽  
pp. 517
Author(s):  
Saritha V. Krishnankutty ◽  
Reni Philip ◽  
Vijayamma Narayani
Keyword(s):  
Retinal Vasculitis ◽  
Immunoglobulin M ◽  
Ocular Toxoplasmosis ◽  
Enzyme Linked Immunosorbent Assay ◽  
Control Group ◽  
Exact Test ◽  
Clinical Presentations ◽  
Atypical Presentations ◽  
Antibody Levels ◽  
Serum Igg Levels

 Background: Large proportions of acquired cases of ocular toxoplasmosis are reported with atypical presentations. The objectives of the study were to find out whether any correlation existed between serological findings of typical and atypical presentations of ocular toxoplasmosis as compared to cases presenting with non-toxoplasmic uveitis and to find out the proportion of various atypical presentations of ocular toxoplasmosis.Methods: It was a prospective observational study.The study subjects of ocular toxoplasmosis were tested for immunoglobulin M (IgM) and immunoglobulin G (IgG) toxoplasma antibody levels in serum by ELISA (enzyme-linked immunosorbent assay) technique. The proportion of atypical presentation among total toxoplasma cases and distribution of atypical cases were calculated.  Fisher’s exact test, one-way analysis of variance and Kruskal-wallis test were used as applicable.Results: Among the cases (n=35) thirteen patients had typical presentation of a retinochoroidal focus with an adjacent scar and 22 patients had atypical features. Control group consisted of 24 patients. Various types of presentations in atypical cases were retinitis patch without an adjacent scar (31.8%), intermediate uveitis (27.3%), papillitis (22.7%) retinal vasculitis and dense vitritis (9.09% each).  Mean IgG levels in typical cases (85.3±82.9 IU/ml) and atypical cases (47.5±66.2) were significantly higher than control group (6.6±3.4, p<0.001).Conclusions: Serology is a useful tool in the diagnosis of ocular toxoplasmosis with a compatible clinical picture as serum IgG levels are significantly elevated in both typical and atypical presentations of ocular toxoplasmosis as compared to cases presenting with non-toxoplasmic uveitis.

scholarly journals Papillitis and Neuroretinitis as Atypical Presentations of Ocular Toxoplasmosis

2021 ◽  
Author(s):  
Nelly Kabedi ◽  
Jean-Claude Mwanza
Keyword(s):  
Optic Nerve ◽  
Oral Prednisone ◽  
Retinal Hemorrhage ◽  
The Other ◽  
Ocular Toxoplasmosis ◽  
Nerve Involvement ◽  
Subretinal Fibrosis ◽  
Atypical Presentations ◽  
Optic Nerve Involvement ◽  
Chorioretinal Scar

Abstract We report three cases of optic nerve toxoplasmisis, an unusual form of ocular toxoplasmosis. In one patient the optic nerve involvement occurred in an eye with a toxoplasmic chorioretinal scar and choroidal neovessels in the supramacular area, subretinal fibrosis, and pigment epitheium detachment. The other two patients had papilledema without healed or active chorioretinal lesions, but both had retinal hemorrhage and macular involvement. The diagnosis was based on clinical examination and elavated serum toxoplama antibodies. Optical coherence tomography helped uncover the structural chorioretinal changes. All three patients were treated with a combination of oral antitoxoplasmic drugs, oral prednisone, and intravitreal injection of bevacizumab. Visual acuity improved in all of them. Optic nerve involvement in ocular toxoplasmosis must be considered when papilledema occurs both in isolation and in the presence of an active or scarred chorioretinal lesion.

Acute hepatic porphyrias for the neurologist: current concepts and perspectives

2021 ◽  
Author(s):  
Paulo Victor Sgobbi de Souza ◽  
Bruno de Mattos Lombardi Badia ◽  
Igor Braga Farias ◽  
Eduardo Augusto Gonçalves ◽  
Wladimir Bocca Vieira de Rezende Pinto ◽  
...  
Keyword(s):  
Central Nervous System Involvement ◽  
Therapeutic Interventions ◽  
Inborn Errors ◽  
Intravenous Glucose ◽  
Inherited Metabolic Disorders ◽  
Life Threatening ◽  
Acute Porphyrias ◽  
Diagnostic Work ◽  
Atypical Presentations ◽  
Interfering Rna

ABSTRACT Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis. Objective: We aimed to review the main clinical and therapeutic aspects associated with acute hepatic porphyrias. Methods: The authors provided a wide non-systematic review of current concepts and recently acquired knowledge about acute hepatic porphyrias. Results: Acute neurovisceral attacks are the most common and life-threatening presentation of this group and are often considered the main clinical manifestation by clinicians during differential diagnosis and the start of proper diagnostic work-up for acute porphyrias. However, atypical presentations with central nervous system involvement, neuropsychiatric disturbances, and some subtypes with photosensitivity usually make the definite diagnosis difficult and late. Early therapeutic interventions are essential during emergency treatment and intercritical periods to avoid recurrent severe presentations. The availability of new disease-modifying therapeutic proposals based on small interfering RNA (siRNA)-based therapies, complementary to the classic intravenous glucose infusion and hemin-based treatments, emphasizes the importance of early diagnosis and genetic counseling of patients. Conclusions: This review article highlights the main biochemical, pathophysiological, clinical, and therapeutic aspects of acute hepatic porphyrias in clinical practice.

An audit and insights from clinical exome sequencing in psychiatry: genotype-phenotype correlation

2020 ◽  
Author(s):  
Jayant Mahadevan ◽  
Reeteka Sud ◽  
Ravi Kumar Nadella ◽  
Vani P ◽  
Anand G Subramaniam ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Psychiatric Symptoms ◽  
Pathogenic Variant ◽  
Clinical Exome Sequencing ◽  
Mapt Gene ◽  
Nf1 Gene ◽  
Novel Variant ◽  
History Of ◽  
Atypical Presentations ◽  
Minor Physical Anomalies

BACKGROUND:Psychiatric syndromes have polymorphic symptomatology, and are known to be heritable. Psychiatric symptoms (and even syndromes) often occur as part of the clinical presentation in rare Mendelian syndromes. Clinical exome sequencing reports may help with refining diagnosis and influence treatment decisions, in addition to providing a window into the biology of brain and behaviour. We describe a clinical audit of 12 individuals who sought treatment at our hospital, and for whom targeted sequencing was ordered. Three cases are discussed in detail to demonstrate correlations between genotype and phenotype in the clinic.METHODS:Targeted Next-Generation Sequencing (NGS) was done using Clinical Exome Panel (TruSight One, Illumina) covering coding exons and flanking intronic sequences of 4811 genes associated with known inherited diseases. Variants detected were classified according to the American College for Medical Genetics (ACMG) recommendation for standards of interpretation and reporting of sequence variations.RESULTS:Ten out of twelve cases had at least one pathogenic variant. In one of these cases, we detected a known pathogenic variant in MAPT gene in a suspected FTD case, which helped us to confirm the diagnosis. In another case, we detected a novel variant predicted to be deleterious in NF1 gene. Identification of this mutation suggested a change in treatment for the patient, that was of benefit. The same patient also harboured a novel variant in the TRIO gene. This gene may be involved in biological processes that underlie the patient’s psychiatric illness.CONCLUSIONS:The cases discussed here exemplify different scenarios under which targeted exome sequencing can find meaningful application in the clinic: confirming diagnosis (MAPT variant), or modifying treatment (NF1). We suggest that clinical exome sequencing can be a helpful addition to a clinician’s toolkit when there are expediting factors to consider— such as early-onset, strong family history of mental illness, complex/atypical presentations and minor physical anomalies or neurocutaneous markers.

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