BILATERAL ATROPHIC MACULOPATHY IN TWO SIBLINGS OF WOLFRAM SYNDROM

Wolfram disease is a rare genetic disease which mainly presents as diabetes mellitus and optic atrophy. Presence of maculopathy in a case of wolfram disease is rarely reported in literature. We present here two cases/siblings with age of 12 and 14 years. They had diabetes mellitus, deafness and disc...

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Autores principales: Tayyab Azeem Janjua, Asad Habib, Muhammad Amer Yaqub, Ayesha Azhar, Hassan Sajjad Rathore
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Lenguaje:EN
Publicado: Army Medical College Rawalpindi 2018
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Acceso en línea:https://doaj.org/article/19f56f93a8494f56a876f039b5836ac8
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spelling oai:doaj.org-article:19f56f93a8494f56a876f039b5836ac82021-11-30T03:40:52ZBILATERAL ATROPHIC MACULOPATHY IN TWO SIBLINGS OF WOLFRAM SYNDROM0030-96482411-8842https://doaj.org/article/19f56f93a8494f56a876f039b5836ac82018-12-01T00:00:00Zhttps://www.pafmj.org/index.php/PAFMJ/article/view/2620/2130https://doaj.org/toc/0030-9648https://doaj.org/toc/2411-8842Wolfram disease is a rare genetic disease which mainly presents as diabetes mellitus and optic atrophy. Presence of maculopathy in a case of wolfram disease is rarely reported in literature. We present here two cases/siblings with age of 12 and 14 years. They had diabetes mellitus, deafness and disc palor. Ocular examination also revealed atrophic maculopathy in both siblings, supported by depressed response on ERG. Assosiation of maculopathy with wolfram syndrome is rare and worth reporting.Tayyab Azeem JanjuaAsad HabibMuhammad Amer YaqubAyesha AzharHassan Sajjad RathoreArmy Medical College RawalpindiarticlediabetesmaculopathyMedicineRMedicine (General)R5-920ENPakistan Armed Forces Medical Journal, Vol 68, Iss 6, Pp 1783-1785 (2018)
institution DOAJ
collection DOAJ
language EN
topic diabetes
maculopathy
Medicine
R
Medicine (General)
R5-920
spellingShingle diabetes
maculopathy
Medicine
R
Medicine (General)
R5-920
Tayyab Azeem Janjua
Asad Habib
Muhammad Amer Yaqub
Ayesha Azhar
Hassan Sajjad Rathore
BILATERAL ATROPHIC MACULOPATHY IN TWO SIBLINGS OF WOLFRAM SYNDROM
description Wolfram disease is a rare genetic disease which mainly presents as diabetes mellitus and optic atrophy. Presence of maculopathy in a case of wolfram disease is rarely reported in literature. We present here two cases/siblings with age of 12 and 14 years. They had diabetes mellitus, deafness and disc palor. Ocular examination also revealed atrophic maculopathy in both siblings, supported by depressed response on ERG. Assosiation of maculopathy with wolfram syndrome is rare and worth reporting.
format article
author Tayyab Azeem Janjua
Asad Habib
Muhammad Amer Yaqub
Ayesha Azhar
Hassan Sajjad Rathore
author_facet Tayyab Azeem Janjua
Asad Habib
Muhammad Amer Yaqub
Ayesha Azhar
Hassan Sajjad Rathore
author_sort Tayyab Azeem Janjua
title BILATERAL ATROPHIC MACULOPATHY IN TWO SIBLINGS OF WOLFRAM SYNDROM
title_short BILATERAL ATROPHIC MACULOPATHY IN TWO SIBLINGS OF WOLFRAM SYNDROM
title_full BILATERAL ATROPHIC MACULOPATHY IN TWO SIBLINGS OF WOLFRAM SYNDROM
title_fullStr BILATERAL ATROPHIC MACULOPATHY IN TWO SIBLINGS OF WOLFRAM SYNDROM
title_full_unstemmed BILATERAL ATROPHIC MACULOPATHY IN TWO SIBLINGS OF WOLFRAM SYNDROM
title_sort bilateral atrophic maculopathy in two siblings of wolfram syndrom
publisher Army Medical College Rawalpindi
publishDate 2018
url https://doaj.org/article/19f56f93a8494f56a876f039b5836ac8
work_keys_str_mv AT tayyabazeemjanjua bilateralatrophicmaculopathyintwosiblingsofwolframsyndrom
AT asadhabib bilateralatrophicmaculopathyintwosiblingsofwolframsyndrom
AT muhammadameryaqub bilateralatrophicmaculopathyintwosiblingsofwolframsyndrom
AT ayeshaazhar bilateralatrophicmaculopathyintwosiblingsofwolframsyndrom
AT hassansajjadrathore bilateralatrophicmaculopathyintwosiblingsofwolframsyndrom
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