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...

Full description

Saved in:
Bibliographic Details
Main Authors: Tayyab Azeem Janjua, Asad Habib, Muhammad Amer Yaqub, Ayesha Azhar, Hassan Sajjad Rathore
Format: article
Language:EN
Published: Army Medical College Rawalpindi 2018
Subjects:
R
Online Access:https://doaj.org/article/19f56f93a8494f56a876f039b5836ac8
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.