• Pak J Med Sci · Jan 2021

    Case Reports

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

    • Javeria Nasir, Anum Javed, Owais Arshad, and Mohammad Hanif Chatni.
    • Dr. Javeria Nasir, MBBS, MCPS. Department of Ophthalmology, Patel Hospital, Karachi, Pakistan.
    • Pak J Med Sci. 2021 Jan 1; 37 (1): 267-271.

    AbstractTriple 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.Copyright: © Pakistan Journal of Medical Sciences.

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