Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa. [PDF]
, 2016 To delineate the genetic determinants associated with retinitis pigmentosa (RP), a hereditary retinal disorder, we recruited four large families manifesting cardinal symptoms of RP. We localized these families to regions on the human genome harboring the
Akram, Javed +9 more
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Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. [PDF]
, 2016 PurposeThis study was undertaken to identify causal mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous families.MethodsLarge consanguineous families were ascertained from the Punjab province of Pakistan.
Akram, Javed +11 more
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Pathogens, 2021 Recent Ebola epidemics, the ongoing COVID-19 pandemic, and emerging infectious disease threats have highlighted the importance of global infectious diseases and responses to public health emergencies.
Sanjana Kuthyar +4 more
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Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. [PDF]
, 2017 PurposeThe Pakistan Punjab population has been a rich source for identifying genes causing or contributing to autosomal recessive retinal degenerations (arRD).
Akram, Javed +24 more
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romanian journal of ophthalmology, 2020 Retinal migraine is usually defined by transitory attacks of fully reversible monocular visual loss, mostly with aura. An accurate diagnostic can be completed based upon the International Classification of Headache Disorders-2 (ICHD-2) criteria. In view of this, we summarized some clinical features, treatment principles, complications, prognosis and ...
Bogdan Marius, Istrate +2 more
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Diagnostic difficulties in a very rare case of mycoplasma pneumoniae uveitis
Acta Marisiensis - Seria Medica, 2023 Introduction: Mycoplasma pneumoniae is known as a common cause of respiratory tract infections, especially in children. Regarding extrapulmonary manifestations, many dysfunctions have been linked to circulating IgM antibodies, including eye diseases and ...
Hadad Ana-Maria-Catalina +3 more
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Genetic analysis for two italian siblings with usher syndrome and schizophrenia. [PDF]
, 2012 Usher syndrome is a group of autosomal recessive genetic disorders characterized by deafness, retinitis pigmentosa, and sometimes vestibular areflexia.
Article Id +5 more
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Spontaneous Resolution of Optic Disc Pit Maculopathy
Türk Oftalmoloji Dergisi, 2017 I read with interest the article reporting spontaneous resolution of optic disc pit maculopathy in a boy.1 Though the presence of an optic disc pit and associated macular involvement is undoubted in the presented case, the provided optical coherence ...
Koushik Tripathy
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Effect of individualized therapy for AIDS patients with cytomegalovirus retinitis in intravitreal ganciclovir injections [PDF]
International Journal of Ophthalmology, 2019 The effect of intravitreal ganciclovir injection combined with intravenous infusion on acquired immune deficiency syndrome (AIDS) patients with cytomegalovirus retinitis (CMVR) was investigated.
Lian-Yong Xie +6 more
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Opportunistic infections in people with II–IV clinical stage of immunodeficiency
Медицина неотложных состояний, 2022 In recent decades, opportunistic infections are a serious medical and social problem due to their spread and significant impact on the quality of life of HIV-infected people. Due to the significant spread of HIV infection, the importance of opportunistic
M.O. Andrushchak +4 more
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