scholarly journals Ocular Manifestations Of Goldenhar Syndrome: At A Glance

2021 ◽  
Vol 32 (1) ◽  
Author(s):  
Isha Acharya
Keyword(s):  
Goldenhar Syndrome ◽  
Ocular Manifestations

Goldenhar Syndrome: A Cause of Hearing Loss and Other Defects in Children

2003 ◽  
Vol 13 (2) ◽  
pp. 10-17
Author(s):  
R. Steven Ackley ◽  
Kerri McDill ◽  
Elizabeth Hellmuth
Keyword(s):  
Hearing Loss ◽  
Goldenhar Syndrome

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.

Management of a Goldenhar Syndrome patient with a custom-made osteosynthesis mesh

2020 ◽  
Vol 4 (3) ◽  
Author(s):  
Carlo Tian ◽  
Ingrid Tonni ◽  
Umberto Zanetti ◽  
Luca Visconti ◽  
Francesco Daleffe ◽  
...  
Keyword(s):  
Goldenhar Syndrome ◽  
Syndrome Patient ◽  
Custom Made

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

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

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.

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