Spectral Domain – Optical Coherence Tomography findings in Triple-A Syndrome – A case series from Pakistan

Author:

Nasir Javeria,Javed Anum,Arshad Muhammad Owais,Chatni Muhammad Hanif

Abstract

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: https://doi.org/10.12669/pjms.37.1.3310 How to cite this:Nasir J, Javed A, Arshad O, Chatni MH. Spectral Domain – Optical Coherence Tomography Findings in Triple-A Syndrome – A case series from Pakistan. Pak J Med Sci. 2021;37(1):267-271. doi: https://doi.org/10.12669/pjms.37.1.3310 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Publisher

Pakistan Journal of Medical Sciences

Subject

General Medicine

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