Ocular manifestations in hemorrhagic disorders and haemoglobinopathies

2020 ◽  
Vol 14 (3) ◽  
pp. 50-53
Author(s):  
SurajkumarShobhalal Kuril ◽  
◽  
TapanPandharinath Jakkal ◽  
Varsha Nandedkar ◽  
Shubha Ghonsikar ◽  
...  
Keyword(s):  
Ocular Manifestations ◽  
Hemorrhagic Disorders

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.

Congenital Zika Virus Infection Paradigm: What is in the Wardrobe? A Narrative Review

2019 ◽  
Vol 1 (1) ◽  
pp. 49-56
Author(s):  
Mariam M. Mirambo ◽  
Lucas Matemba ◽  
Mtebe Majigo ◽  
Stephen E. Mshana
Keyword(s):  
Virus Infection ◽  
Neural Tube ◽  
Zika Virus ◽  
English Language ◽  
Case Reports ◽  
Case Series ◽  
Epidemiological Studies ◽  
Ocular Manifestations ◽  
Zika Virus Infection ◽  
N 93

Background: Zika virus infection during pregnancy has been recently associated with congenital microcephaly and other severe neural tube defects. However, the magnitude of confirmed cases and the scope of these anomalies have not been extensively documented. This review focuses on the magnitude of laboratory-confirmed congenital Zika virus cases among probable cases and describing the patterns of congenital anomalies allegedly caused by the Zika virus, information which will inform further research in this area. Methods: We conducted a literature search for English-language articles about congenital Zika virus infection using online electronic databases (PubMed/MEDLINE, POPLINE, Embase, Google Scholar, and Web of Knowledge). The search terms used were, “zika”, “pregnancy”, [year], “microcephaly”, “infants”, “children”, “neonates”, “foetuses”, “neural tube defect”, and “CNS manifestations” in different combinations. All articles reporting cases or case series between January 2015 and December 2016 were included. Data were entered into a Microsoft Excel database and analysed to obtain proportions of the confirmed cases and patterns of anomalies. Results: A total of 24 articles (11 case series, 9 case reports, and 4 others) were found to be eligible and included in this review. These articles reported 919 cases, with or without microcephaly, presumed to have congenital Zika virus infection. Of these cases, 884 (96.2%) had microcephaly. Of the 884 cases of microcephaly, 783 (88.6%) were tested for Zika virus infection, and 216 (27.6%; 95% confidence interval, 24.5% to 30.8%) were confirmed to be Zika virus-positive. In addition to microcephaly, other common abnormalities reported – out of 442 cases investigated – were calcifications of brain tissue (n=240, 54.3%), ventriculomegaly (n=93, 20.8%), cerebellar hypoplasia (n=52, 11.7%), and ocular manifestations (n=46, 10.4%). Conclusion: Based on the available literature, Zika virus infection during pregnancy might lead to a wide array of outcomes other than microcephaly. There is a need for more epidemiological studies in Zika-endemic areas, particularly in Africa, to ascertain the role of Zika virus in causing congenital neurological defects.

Congenital Zika Virus Infection Paradigm: What is in the Wardrobe? A Narrative Review

2019 ◽  
Vol 1 (1) ◽  
pp. 49-56
Author(s):  
Mariam M. Mirambo ◽  
Lucas Matemba ◽  
Mtebe Majigo ◽  
Stephen E. Mshana
Keyword(s):  
Virus Infection ◽  
Neural Tube ◽  
Zika Virus ◽  
English Language ◽  
Case Reports ◽  
Case Series ◽  
Epidemiological Studies ◽  
Ocular Manifestations ◽  
Zika Virus Infection ◽  
N 93

Background: Zika virus infection during pregnancy has been recently associated with congenital microcephaly and other severe neural tube defects. However, the magnitude of confirmed cases and the scope of these anomalies have not been extensively documented. This review focuses on the magnitude of laboratory-confirmed congenital Zika virus cases among probable cases and describing the patterns of congenital anomalies allegedly caused by the Zika virus, information which will inform further research in this area. Methods: We conducted a literature search for English-language articles about congenital Zika virus infection using online electronic databases (PubMed/MEDLINE, POPLINE, Embase, Google Scholar, and Web of Knowledge). The search terms used were, “zika”, “pregnancy”, [year], “microcephaly”, “infants”, “children”, “neonates”, “foetuses”, “neural tube defect”, and “CNS manifestations” in different combinations. All articles reporting cases or case series between January 2015 and December 2016 were included. Data were entered into a Microsoft Excel database and analysed to obtain proportions of the confirmed cases and patterns of anomalies. Results: A total of 24 articles (11 case series, 9 case reports, and 4 others) were found to be eligible and included in this review. These articles reported 919 cases, with or without microcephaly, presumed to have congenital Zika virus infection. Of these cases, 884 (96.2%) had microcephaly. Of the 884 cases of microcephaly, 783 (88.6%) were tested for Zika virus infection, and 216 (27.6%; 95% confidence interval, 24.5% to 30.8%) were confirmed to be Zika virus-positive. In addition to microcephaly, other common abnormalities reported – out of 442 cases investigated – were calcifications of brain tissue (n=240, 54.3%), ventriculomegaly (n=93, 20.8%), cerebellar hypoplasia (n=52, 11.7%), and ocular manifestations (n=46, 10.4%). Conclusion: Based on the available literature, Zika virus infection during pregnancy might lead to a wide array of outcomes other than microcephaly. There is a need for more epidemiological studies in Zika-endemic areas, particularly in Africa, to ascertain the role of Zika virus in causing congenital neurological defects.

Current trends in the treatment of ocular manifestations of children`s hypoplasminogenemia

2019 ◽  
pp. 86-90
Author(s):  
K.A. Dubrovina ◽  
◽  
E.Y. Markova ◽  
B.S. Begeeva ◽  
◽  
...  
Keyword(s):  
Ocular Manifestations ◽  
Current Trends

Eye in COVID-19: A Brief Review

2020 ◽  
Vol 36 (3) ◽  
Author(s):  
Muhammad Mohsin Ali ◽  
Qudsia Anwar Dar ◽  
Zahid Kamal ◽  
Alishba Khan
Keyword(s):  
Infection Control ◽  
Respiratory Symptoms ◽  
Literature Search ◽  
Control Measures ◽  
Transmission Route ◽  
Ocular Manifestation ◽  
Personal Protection ◽  
Personal Protection Equipment ◽  
Ocular Manifestations ◽  
Infection Control Measures

This is a brief review covering the currently available literature on ocular manifestations of COVID-19, andprevention strategies for ophthalmologists. A literature search was carried out of Pubmed, Google Scholar andWHO database of publications on COVID. Keywords used in the search were eye, ocular manifestations,ophthalmology, COVID-19, nCoV-2019, and coronavirus disease. All available articles were reviewed and thosepertinent to the study topic were included. Considering the dearth of information available, ophthalmology journals were also searched separately for relevant articles. Major ocular manifestation of COVID reported in literature is red eye, which usually presents before the onset of respiratory symptoms. Since the eye can be a possible transmission route for SARS-CoV-2, infection control measures should be undertaken by ophthalmologists, including use of personal protection equipment and eye/face covering. A framework for structuring ophthalmological services during the COVID pandemic is also presented in this review.

scholarly journals Ocular manifestations of emerging viral diseases

Eye ◽  
2021 ◽  
Author(s):  
Ashwin Venkatesh ◽  
Ravi Patel ◽  
Simran Goyal ◽  
Timothy Rajaratnam ◽  
Anant Sharma ◽  
...  
Keyword(s):  
Public Health ◽  
Infectious Diseases ◽  
Influenza A ◽  
Emerging Infectious Diseases ◽  
Global Scale ◽  
Viral Diseases ◽  
Valley Fever ◽  
Ocular Manifestations ◽  
Influenza A H1n1 ◽  
Emerging Viral Diseases

AbstractEmerging infectious diseases (EIDs) are an increasing threat to public health on a global scale. In recent times, the most prominent outbreaks have constituted RNA viruses, spreading via droplets (COVID-19 and Influenza A H1N1), directly between humans (Ebola and Marburg), via arthropod vectors (Dengue, Zika, West Nile, Chikungunya, Crimean Congo) and zoonotically (Lassa fever, Nipah, Rift Valley fever, Hantaviruses). However, specific approved antiviral therapies and vaccine availability are scarce, and public health measures remain critical. Patients can present with a spectrum of ocular manifestations. Emerging infectious diseases should therefore be considered in the differential diagnosis of ocular inflammatory conditions in patients inhabiting or returning from endemic territories, and more general vigilance is advisable in the context of a global pandemic. Eye specialists are in a position to facilitate swift diagnosis, improve clinical outcomes, and contribute to wider public health efforts during outbreaks. This article reviews those emerging viral diseases associated with reports of ocular manifestations and summarizes details pertinent to practicing eye specialists.

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 “Old wine in a new bottle” - post COVID-19 infection, central serous chorioretinopathy and the steroids

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Srinivasan Sanjay ◽  
Poornachandra B. Gowda ◽  
Bhimasena Rao ◽  
Deepashri Mutalik ◽  
Padmamalini Mahendradas ◽  
...  
Keyword(s):  
Virus Disease ◽  
Anterior Segment ◽  
Central Serous Retinopathy ◽  
Oral Antibiotics ◽  
Rt Pcr ◽  
Case Presentation ◽  
Ocular Manifestations ◽  
Corrected Distance Visual Acuity ◽  
History Of ◽  
The Right

Abstract Introduction Corona virus disease (COVID-19) pandemic can cause myriad of ocular manifestations. We report a case of unilateral multi focal central serous retinopathy, post COVID-19 infection in an Asian Indian female. Case presentation A 42-year-old female presented to us with unilateral blurring, in the right eye (OD), 12 days after COVID-19 infection. She had fever, chills, shortness of breath and cough with tiredness and was COVID- RT PCR positive. She was administered intravenous and oral antibiotics with injection heparin/remdesivir, during her 7 day stay at the hospital. She was also on steroid inhalers. She had no systemic history of note. On ocular evaluation, her corrected distance visual acuity was 20/40 in OD and 20/20 in left eye (OS). Anterior segment was normal. Anterior vitreous was clear. Fundus examination of the OD showed central serous retinopathy (CSCR) with OS being normal. Conclusion CSCR can occur post COVID-19 due to steroid administration and physicians administering it should be aware of this and refer the patients to an ophthalmologist earlier.

scholarly journals Intravenous Immunoglobulin Treatment in Kawasaki Disease Decreases the Incidence of Myopia

2021 ◽  
Vol 10 (7) ◽  
pp. 1381
Author(s):  
Hun-Ju Yu ◽  
Meng-Ni Chuang ◽  
Chiao-Lun Chu ◽  
Pei-Lin Wu ◽  
Shu-Chen Ho ◽  
...  
Keyword(s):  
Kawasaki Disease ◽  
Intravenous Immunoglobulin ◽  
Systemic Vasculitis ◽  
Age Distribution ◽  
Population Based ◽  
Research Database ◽  
Ocular Manifestations ◽  
Missing Data Treatment ◽  
The Difference ◽  
Age Range

Kawasaki disease (KD) is a systemic vasculitis that primarily affects children under the age of 5 years old. The most significant complication is coronary artery lesions, but several ocular manifestations have also been reported. Recently, one study revealed an increasing incidence of myopia among KD patients. Therefore, the aim of this study was to assess the difference in myopic incidence between Kawasaki disease (KD) patients treated with aspirin and intravenous immunoglobulin (IVIG). Materials and methods: We carried out a nationwide retrospective cohort study by analyzing the data of KD patients (ICD-9-CM code 4461) from Taiwan’s National Health Insurance Research Database (NHIRD) during the period of 1996–2013. Results: A total of 14,102 diagnosed KD were found in Taiwan during the study period. After excluded missing data, treatment strategy and age distribution, a total of 1446 KD patients were enrolled for analysis including 53 of which received aspirin (without IVIG) and 1393 of which were treated with IVIG. Patients who had myopia, astigmatism, glaucoma, cataract, etc. prior to their KD diagnosis were excluded. The age range was 0 to 6 years old. According to the cumulative curves, our results demonstrated that the myopic incidence in the IVIG group was significantly lower than the aspirin group (hazard ratio: 0.59, 95% confidence intervals: 0.36~0.96, p = 0.02). Treatment with IVIG for KD patients may have benefit for myopia control. Conclusion: Compared to aspirin, IVIG may decrease the myopic risk in KD patients. However, it needs further investigation including clinical vision survey of myopia due to the limitations of this population-based study.

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