Raised Intraocular Pressure as a Potential Risk Factor for Visual Loss in Leber Hereditary Optic Neuropathy
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{"title"=>"Raised Intraocular Pressure as a Potential Risk Factor for Visual Loss in Leber Hereditary Optic Neuropathy", "type"=>"journal", "authors"=>[{"first_name"=>"Anais", "last_name"=>"Thouin", "scopus_author_id"=>"55425620300"}, {"first_name"=>"Philip G.", "last_name"=>"Griffiths", "scopus_author_id"=>"7402559436"}, {"first_name"=>"Gavin", "last_name"=>"Hudson", "scopus_author_id"=>"16230214700"}, {"first_name"=>"Patrick F.", "last_name"=>"Chinnery", "scopus_author_id"=>"9533655500"}, {"first_name"=>"Patrick", "last_name"=>"Yu-Wai-Man", "scopus_author_id"=>"16481648300"}], "year"=>2013, "source"=>"PLoS ONE", "identifiers"=>{"pui"=>"368860054", "issn"=>"19326203", "doi"=>"10.1371/journal.pone.0063446", "scopus"=>"2-s2.0-84877138562", "pmid"=>"23667621", "sgr"=>"84877138562"}, "id"=>"cc4f7fdd-a52d-3d50-b727-cbd474967e79", "abstract"=>"Leber Hereditary Optic Neuropathy (LHON) is an important cause of inherited mitochondrial blindness among young adults. The majority of patients carry one of three mitochondrial DNA (mtDNA) point mutations: m.3460G>A, m.11778G>A and m.14484T>C, all of which affect critical complex I subunits of the mitochondrial respiratory chain. LHON is characterised by marked incomplete penetrance, clearly implying that the mtDNA mutation is insufficient on its own to trigger retinal ganglion cell dysfunction and visual loss. In this case series of three affected patients harbouring the m.11778G>A mutation, we provide evidence suggesting that raised intraocular pressure could be a risk factor triggering visual loss in at-risk LHON carriers.", "link"=>"http://www.mendeley.com/research/raised-intraocular-pressure-potential-risk-factor-visual-loss-leber-hereditary-optic-neuropathy-1", "reader_count"=>18, "reader_count_by_academic_status"=>{"Unspecified"=>1, "Researcher"=>2, "Student > Doctoral Student"=>1, "Student > Ph. D. Student"=>3, "Student > Postgraduate"=>2, "Other"=>2, "Student > Master"=>5, "Student > Bachelor"=>1, "Lecturer"=>1}, "reader_count_by_user_role"=>{"Unspecified"=>1, "Researcher"=>2, "Student > Doctoral Student"=>1, "Student > Ph. D. Student"=>3, "Student > Postgraduate"=>2, "Other"=>2, "Student > Master"=>5, "Student > Bachelor"=>1, "Lecturer"=>1}, "reader_count_by_subject_area"=>{"Unspecified"=>2, "Nursing and Health Professions"=>1, "Biochemistry, Genetics and Molecular Biology"=>1, "Materials Science"=>1, "Medicine and Dentistry"=>8, "Agricultural and Biological Sciences"=>1, "Neuroscience"=>1, "Veterinary Science and Veterinary Medicine"=>1, "Pharmacology, Toxicology and Pharmaceutical Science"=>1, "Social Sciences"=>1}, "reader_count_by_subdiscipline"=>{"Materials Science"=>{"Materials Science"=>1}, "Medicine and Dentistry"=>{"Medicine and Dentistry"=>8}, "Neuroscience"=>{"Neuroscience"=>1}, "Social Sciences"=>{"Social Sciences"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>1}, "Nursing and Health Professions"=>{"Nursing and Health Professions"=>1}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>1}, "Unspecified"=>{"Unspecified"=>2}, "Pharmacology, Toxicology and Pharmaceutical Science"=>{"Pharmacology, Toxicology and Pharmaceutical Science"=>1}, "Veterinary Science and Veterinary Medicine"=>{"Veterinary Science and Veterinary Medicine"=>1}}, "group_count"=>0}

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/1055089", "https://ndownloader.figshare.com/files/1055090", "https://ndownloader.figshare.com/files/1055091"], "description"=>"<div><p>Leber Hereditary Optic Neuropathy (LHON) is an important cause of inherited mitochondrial blindness among young adults. The majority of patients carry one of three mitochondrial DNA (mtDNA) point mutations: m.3460G>A, m.11778G>A and m.14484T>C, all of which affect critical complex I subunits of the mitochondrial respiratory chain. LHON is characterised by marked incomplete penetrance, clearly implying that the mtDNA mutation is insufficient on its own to trigger retinal ganglion cell dysfunction and visual loss. In this case series of three affected patients harbouring the m.11778G>A mutation, we provide evidence suggesting that raised intraocular pressure could be a risk factor triggering visual loss in at-risk LHON carriers.</p></div>", "links"=>[], "tags"=>["neuroscience", "Sensory systems", "Visual system", "Population biology", "population genetics", "mutation", "Clinical genetics", "Mitochondrial diseases", "Leber hereditary optic neuropathy", "neurology", "Neuro-ophthalmology", "ophthalmology", "glaucoma", "Inherited eye disorders", "intraocular", "leber", "hereditary", "optic"], "article_id"=>698946, "categories"=>["Medicine", "Biological Sciences"], "users"=>["Anais Thouin", "Philip G. Griffiths", "Gavin Hudson", "Patrick F. Chinnery", "Patrick Yu-Wai-Man"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0063446.s001", "https://dx.doi.org/10.1371/journal.pone.0063446.s002", "https://dx.doi.org/10.1371/journal.pone.0063446.s003"], "stats"=>{"downloads"=>0, "page_views"=>8, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Raised_Intraocular_Pressure_as_a_Potential_Risk_Factor_for_Visual_Loss_in_Leber_Hereditary_Optic_Neuropathy_/698946", "title"=>"Raised Intraocular Pressure as a Potential Risk Factor for Visual Loss in Leber Hereditary Optic Neuropathy", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2013-05-07 02:29:06"}
  • {"files"=>["https://ndownloader.figshare.com/files/1055075"], "description"=>"<p>(A) Right optic disc cupping (arrow) was noted when the patient first presented with visual loss in the right eye. The left optic disc was normal. Humphrey™ visual field perimetry was carried out using the 24-2 SITA-FAST protocol. The right visual field showed a caecocentral scotoma with superior and inferior nasal step defects, in keeping with glaucomatous optic nerve damage prior to LHON disease onset (Mean deviation in September 2008: LE = −2.48 dB, RE = −22.06 dB). (B) Progression of right optic disc cupping with pallor of the remaining neuroretinal rim. The left optic disc remained normal. A dense field defect was present in the right eye (Mean deviation in August 2012: LE = −2.78 dB, RE = −29.25 dB). The changes in peripapillary retinal nerve fibre layer thickness over that period of time have been provided in <b><i><a href=\"http://www.plosone.org/article/info:doi/10.1371/journal.pone.0063446#pone.0063446.s001\" target=\"_blank\">Figure S1</a></i></b>.</p>", "links"=>[], "tags"=>["neuroscience", "Sensory systems", "Visual system", "Population biology", "population genetics", "mutation", "Clinical genetics", "Mitochondrial diseases", "Leber hereditary optic neuropathy", "neurology", "Neuro-ophthalmology", "ophthalmology", "glaucoma", "Inherited eye disorders", "fields"], "article_id"=>698932, "categories"=>["Medicine", "Biological Sciences"], "users"=>["Anais Thouin", "Philip G. Griffiths", "Gavin Hudson", "Patrick F. Chinnery", "Patrick Yu-Wai-Man"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0063446.g001", "stats"=>{"downloads"=>0, "page_views"=>5, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Optic_disc_appearance_and_visual_fields_of_Patient_1_/698932", "title"=>"Optic disc appearance and visual fields of Patient 1.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-05-07 02:28:52"}
  • {"files"=>["https://ndownloader.figshare.com/files/1055077"], "description"=>"<p>(A) Inferotemporal notching of the left optic disc was present at LHON disease onset (arrow). The patient was unable to perform Humphrey™ visual field perimetry reliably. Goldmann visual fields showed a steep-sided caecocentral scotoma in the right eye and a central scotoma in the left eye. (B) Advanced bilateral optic disc cupping with pallor of the remaining neuroretinal rim. Although visual field assessment became increasingly difficult as the patient’s visual acuities deteriorated to count fingers in both eyes, gradual peripheral field constriction was noted during the course of his follow-up visits. The changes in peripapillary retinal nerve fibre layer thickness over that period of time have been provided in <b><i><a href=\"http://www.plosone.org/article/info:doi/10.1371/journal.pone.0063446#pone.0063446.s002\" target=\"_blank\">Figure S2</a></i></b>.</p>", "links"=>[], "tags"=>["neuroscience", "Sensory systems", "Visual system", "Population biology", "population genetics", "mutation", "Clinical genetics", "Mitochondrial diseases", "Leber hereditary optic neuropathy", "neurology", "Neuro-ophthalmology", "ophthalmology", "glaucoma", "Inherited eye disorders", "fields"], "article_id"=>698934, "categories"=>["Medicine", "Biological Sciences"], "users"=>["Anais Thouin", "Philip G. Griffiths", "Gavin Hudson", "Patrick F. Chinnery", "Patrick Yu-Wai-Man"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0063446.g002", "stats"=>{"downloads"=>1, "page_views"=>22, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Optic_disc_appearance_and_visual_fields_of_Patient_2_/698934", "title"=>"Optic disc appearance and visual fields of Patient 2.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-05-07 02:28:54"}
  • {"files"=>["https://ndownloader.figshare.com/files/1055081"], "description"=>"<p>(A) Advanced cupping of the right disc with a small peripapillary haemorrhage still persisting at the superotemporal disc margin (arrow). The patient had been aware of visual deterioration in the right eye since April 2007. Visual loss started in the left eye in January 2008. (B) Advanced bilateral optic disc cupping with pallor of the remaining neuroretinal rim. The right panel shows the progression of the visual field defects in both eyes at three different time points: (i) after the onset of visual loss in the right eye (Mean deviation in December 2007: LE = −1.05 dB, RE = −25.10 dB); (ii) following disease onset in the fellow eye (Mean deviation in April 2008: LE = −9.03 dB, RE = −22.97 dB); and (iii) at the patient’s last follow-up visit (Mean deviation in August 2012: LE = −17.03 dB, RE = −27.40 dB). The changes in peripapillary retinal nerve fibre layer thickness over that period of time have been provided in <b><i><a href=\"http://www.plosone.org/article/info:doi/10.1371/journal.pone.0063446#pone.0063446.s003\" target=\"_blank\">Figure S3</a></i></b>.</p>", "links"=>[], "tags"=>["neuroscience", "Sensory systems", "Visual system", "Population biology", "population genetics", "mutation", "Clinical genetics", "Mitochondrial diseases", "Leber hereditary optic neuropathy", "neurology", "Neuro-ophthalmology", "ophthalmology", "glaucoma", "Inherited eye disorders", "fields"], "article_id"=>698938, "categories"=>["Medicine", "Biological Sciences"], "users"=>["Anais Thouin", "Philip G. Griffiths", "Gavin Hudson", "Patrick F. Chinnery", "Patrick Yu-Wai-Man"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0063446.g003", "stats"=>{"downloads"=>0, "page_views"=>4, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Optic_disc_appearance_and_visual_fields_of_Patient_3_/698938", "title"=>"Optic disc appearance and visual fields of Patient 3.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-05-07 02:28:58"}
  • {"files"=>["https://ndownloader.figshare.com/files/1055083"], "description"=>"<p>Chance occurrence of raised intraocular pressure ≥30 mmHg in an affected LHON carrier.</p>", "links"=>[], "tags"=>["neuroscience", "Sensory systems", "Visual system", "Population biology", "population genetics", "mutation", "Clinical genetics", "Mitochondrial diseases", "Leber hereditary optic neuropathy", "neurology", "Neuro-ophthalmology", "ophthalmology", "glaucoma", "Inherited eye disorders", "occurrence", "raised", "intraocular", "mmhg", "affected", "lhon"], "article_id"=>698940, "categories"=>["Medicine", "Biological Sciences"], "users"=>["Anais Thouin", "Philip G. Griffiths", "Gavin Hudson", "Patrick F. Chinnery", "Patrick Yu-Wai-Man"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0063446.t002", "stats"=>{"downloads"=>0, "page_views"=>3, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Chance_occurrence_of_raised_intraocular_pressure_8805_30_mmHg_in_an_affected_LHON_carrier_/698940", "title"=>"Chance occurrence of raised intraocular pressure ≥30 mmHg in an affected LHON carrier.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-05-07 02:29:00"}
  • {"files"=>["https://ndownloader.figshare.com/files/1055084"], "description"=>"a<p>Antituberculous and antiretroviral treatment;</p>b<p>Amblyopic eye with a divergent strabismus; CF: count fingers; IOP: intraocular pressure; LE: left eye; mg: milligrams; N/A: not available; OHT: ocular hypertension; OU: both eyes; RE: right eye; tds: three times a day; VA: visual acuity.</p>", "links"=>[], "tags"=>["neuroscience", "Sensory systems", "Visual system", "Population biology", "population genetics", "mutation", "Clinical genetics", "Mitochondrial diseases", "Leber hereditary optic neuropathy", "neurology", "Neuro-ophthalmology", "ophthalmology", "glaucoma", "Inherited eye disorders", "lhon"], "article_id"=>698941, "categories"=>["Medicine", "Biological Sciences"], "users"=>["Anais Thouin", "Philip G. Griffiths", "Gavin Hudson", "Patrick F. Chinnery", "Patrick Yu-Wai-Man"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0063446.t001", "stats"=>{"downloads"=>9, "page_views"=>4, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Clinical_features_and_management_of_reported_LHON_cases_/698941", "title"=>"Clinical features and management of reported LHON cases.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-05-07 02:29:01"}

PMC Usage Stats | Further Information

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  • {"unique-ip"=>"19", "full-text"=>"16", "pdf"=>"7", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2018", "month"=>"10"}
  • {"unique-ip"=>"6", "full-text"=>"6", "pdf"=>"1", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2019", "month"=>"2"}
  • {"unique-ip"=>"8", "full-text"=>"10", "pdf"=>"2", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"3", "cited-by"=>"0", "year"=>"2019", "month"=>"3"}
  • {"unique-ip"=>"10", "full-text"=>"9", "pdf"=>"2", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2019", "month"=>"4"}
  • {"unique-ip"=>"9", "full-text"=>"9", "pdf"=>"1", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2019", "month"=>"5"}
  • {"unique-ip"=>"13", "full-text"=>"12", "pdf"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2019", "month"=>"8"}

Relative Metric

{"start_date"=>"2013-01-01T00:00:00Z", "end_date"=>"2013-12-31T00:00:00Z", "subject_areas"=>[{"subject_area"=>"/Biology and life sciences/Cell biology", "average_usage"=>[272, 472, 600, 713, 815, 911, 1004, 1094, 1185, 1273, 1358, 1441]}, {"subject_area"=>"/Biology and life sciences/Genetics", "average_usage"=>[284, 491, 620, 738, 843, 945, 1043, 1137, 1225, 1315, 1400, 1479, 1555]}, {"subject_area"=>"/Medicine and health sciences/Anatomy and physiology", "average_usage"=>[253, 430]}, {"subject_area"=>"/Medicine and health sciences/Ophthalmology", "average_usage"=>[217, 391, 496, 595, 697, 781, 875, 952, 1050, 1136, 1210, 1272, 1332]}, {"subject_area"=>"/Social sciences", "average_usage"=>[289, 475, 593, 703, 805, 902, 990, 1078, 1158, 1250, 1336, 1417, 1482]}, {"subject_area"=>"/Social sciences/Psychology", "average_usage"=>[294, 460, 580, 683, 777, 868, 957, 1044, 1124, 1202, 1276, 1356, 1422]}]}
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