Potpourri of retinopathies in rare eye disease – A case series

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dc.contributor.authorPawar, Neelamen_US
dc.contributor.authorManayath, George Jen_US
dc.contributor.authorVerghese, Shishiren_US
dc.contributor.authorChandrakanth, Prithvien_US
dc.contributor.authorShah, Virnaen_US
dc.contributor.authorRaut, Ashwinien_US
dc.contributor.authorGaikwad, Swarnaen_US
dc.contributor.authorPatil, Parth Aen_US
dc.contributor.authorDaswani, Manshaen_US
dc.contributor.authorMeenakshi, Ren_US
dc.contributor.authorNarendran, Kalpanaen_US
dc.contributor.authorNarendran, Venkatapathyen_US
dc.date.accessioned2023-08-25T06:33:45Z
dc.date.available2023-08-25T06:33:45Z
dc.date.issued2022-07
dc.description.abstractThis case series describes the ocular and retinal manifestations of rare eye diseases in systemic syndromes. This observational case series consists of five patients with varied ophthalmic manifestations and documentation of imaging in rare pediatric and adult retinopathies. Two patients had Kearns Sayre syndrome (KSS) based on the classical triad of external ophthalmoplegia, pigmentary retinopathy, and onset before 20 years of age. In one patient of KSS, the mitochondrial retinopathy was seen in an asymmetric pattern, and the second patient presented with KSS after being mis-diagnosed as myasthenia gravis elsewhere. A case of Senior Loken syndrome in pediatric age is described in this series with varied ophthalmic manifestations ranging from retinitis pigmentosa to orbital abscess. This series also enlightens features of Hallervorden Spatz syndrome presenting with bull’s eye maculopathy and a case of spino-cerebellar ataxia type 7 presenting with pigmentary retinopathy.en_US
dc.identifier.affiliationsPediatric Ophthalmology and Squint Services, Aravind Eye Hospital and Post Graduate Institute of Ophthalmology, Tirunelveli, Indiaen_US
dc.identifier.affiliationsDepartment of Retina & Vitreous Aravind Eye Hospital & Postgraduate institute of Ophthalmology, Coimbatore, Indiaen_US
dc.identifier.affiliationsDepartment of Neuro-ophthalmology, Aravind Eye Hospital & Postgraduate institute of Ophthalmology, Coimbatore, Indiaen_US
dc.identifier.affiliationsMahatama Gandhi Eye Hospital, Nagpur, Indiaen_US
dc.identifier.affiliationsDepartment of Pediatric Ophthalmology & Strabismus Aravind Eye Hospital & Postgraduate Institute of Ophthalmology, Coimbatore, Indiaen_US
dc.identifier.citationPawar Neelam, Manayath George J, Verghese Shishir, Chandrakanth Prithvi, Shah Virna, Raut Ashwini, Gaikwad Swarna, Patil Parth A, Daswani Mansha, Meenakshi R, Narendran Kalpana, Narendran Venkatapathy. Potpourri of retinopathies in rare eye disease – A case series. Indian Journal of Ophthalmology. 2022 Jul; 70(7): 2605-2609en_US
dc.identifier.issn1998-3689
dc.identifier.issn0301-4738
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/224440
dc.languageenen_US
dc.publisherAll India Ophthalmological Societyen_US
dc.relation.issuenumber7en_US
dc.relation.volume70en_US
dc.source.urihttps://doi.org/10.4103/ijo.IJO_3002_21en_US
dc.subjectHallervorden Spatz syndromeen_US
dc.subjectKearns Sayre syndromeen_US
dc.subjectpigmentary retinopathyen_US
dc.subjectSenior Loken syndromeen_US
dc.subjectspino-cerebellar ataxia type 7en_US
dc.titlePotpourri of retinopathies in rare eye disease – A case seriesen_US
dc.typeJournal Articleen_US
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