Spectral Domain - Optical Coherence Tomography findings in Triple-A Syndrome - A case series from Pakistan
Triple A Syndrome is an autosomal recessive entity involving multiple systems usually characterized by adrenal insufficiency, alacrimia and achalasia. The disease features include variable degrees of neurological and neuro-ophthalmic manifestations. Protein ALADIN encoded by the AAAS gene is found t...
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| Veröffentlicht in: | Pakistan journal of medical sciences 2021-02, Vol.37 (1), p.267-271 |
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| container_title | Pakistan journal of medical sciences |
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| creator | Nasir, Javeria Javed, Anum Arshad, Owais Chatni, Mohammad Hanif |
| description | Triple A Syndrome is an autosomal recessive entity involving multiple systems usually characterized by adrenal insufficiency, alacrimia and achalasia. The disease features include variable degrees of neurological and neuro-ophthalmic manifestations. Protein ALADIN encoded by the AAAS gene is found to be defective in Triple A Syndrome. Here we discuss a case series of five patients diagnosed as Triple A Syndrome. Clinically there was variable degree of optic atrophy in all the cases, which was further confirmed with spectral domain Optical Coherence Tomography The aim of this study was to publish the OCT based ONFL graphs of these unique cases, so that being an ophthalmologist we can take a multidisciplinary approach and decisions accordingly. |
| doi_str_mv | 10.12669/pjms.37.1.3310 |
| format | Article |
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The disease features include variable degrees of neurological and neuro-ophthalmic manifestations. Protein ALADIN encoded by the AAAS gene is found to be defective in Triple A Syndrome. Here we discuss a case series of five patients diagnosed as Triple A Syndrome. Clinically there was variable degree of optic atrophy in all the cases, which was further confirmed with spectral domain Optical Coherence Tomography The aim of this study was to publish the OCT based ONFL graphs of these unique cases, so that being an ophthalmologist we can take a multidisciplinary approach and decisions accordingly.</description><identifier>ISSN: 1682-024X</identifier><identifier>EISSN: 1681-715X</identifier><identifier>DOI: 10.12669/pjms.37.1.3310</identifier><identifier>PMID: 33437289</identifier><language>eng</language><publisher>Pakistan: Knowledge Bylanes</publisher><subject>Atrophy ; Children & youth ; Clinical Case Series ; Cornea ; Medical research ; Medicine, Experimental ; Mutation ; Optic nerve ; Optics</subject><ispartof>Pakistan journal of medical sciences, 2021-02, Vol.37 (1), p.267-271</ispartof><rights>Copyright: © Pakistan Journal of Medical Sciences.</rights><rights>COPYRIGHT 2021 Knowledge Bylanes</rights><rights>(c)2021 Pakistan Journal of Medical Sciences</rights><rights>Copyright: © Pakistan Journal of Medical Sciences 2021</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7794165/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7794165/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,864,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33437289$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nasir, Javeria</creatorcontrib><creatorcontrib>Javed, Anum</creatorcontrib><creatorcontrib>Arshad, Owais</creatorcontrib><creatorcontrib>Chatni, Mohammad Hanif</creatorcontrib><title>Spectral Domain - Optical Coherence Tomography findings in Triple-A Syndrome - A case series from Pakistan</title><title>Pakistan journal of medical sciences</title><addtitle>Pak J Med Sci</addtitle><description>Triple A Syndrome is an autosomal recessive entity involving multiple systems usually characterized by adrenal insufficiency, alacrimia and achalasia. The disease features include variable degrees of neurological and neuro-ophthalmic manifestations. Protein ALADIN encoded by the AAAS gene is found to be defective in Triple A Syndrome. Here we discuss a case series of five patients diagnosed as Triple A Syndrome. 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| ispartof | Pakistan journal of medical sciences, 2021-02, Vol.37 (1), p.267-271 |
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| language | eng |
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| source | DOAJ Directory of Open Access Journals; PubMed Central Open Access; PubMed Central; Alma/SFX Local Collection |
| subjects | Atrophy Children & youth Clinical Case Series Cornea Medical research Medicine, Experimental Mutation Optic nerve Optics |
| title | Spectral Domain - Optical Coherence Tomography findings in Triple-A Syndrome - A case series from Pakistan |
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