The X factor

Muhammad Musab Shamim; Aroucha Vickers; Andrew G Lee; Fiona Costello

doi:10.1016/j.survophthal.2018.11.003

The X factor

Surv Ophthalmol. 2019 Nov-Dec;64(6):876-883. doi: 10.1016/j.survophthal.2018.11.003. Epub 2018 Dec 4.

Authors

Muhammad Musab Shamim¹, Aroucha Vickers², Andrew G Lee³, Fiona Costello⁴

Affiliations

¹ Baylor College of Medicine, School of Medicine, Houston, Texas, USA.
² Blanton Eye Institute, Houston Methodist Hospital, Department of Ophthalmology, Houston, Texas, USA.
³ Blanton Eye Institute, Houston Methodist Hospital, Department of Ophthalmology, Houston, Texas, USA; Professor of Ophthalmology, Neurology, and Neurosurgery, Weill Cornell Medicine, New York City, New York, USA; Adjunct Professor of Ophthalmology, Baylor College of Medicine and the Center for Space Medicine, The University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA; The University of Buffalo, Houston, Texas, USA; Clinical Professor at UTMB Galveston and UT MD Anderson Cancer Center, Houston, Texas, USA; Texas A and M College of Medicine, College Station, Texas, USA. Electronic address: aglee@houstonmethodist.org.
⁴ Associate Professor, Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada; Associate Professor, Department of Surgery, University of Calgary, Calgary, Alberta, Canada.

PMID: 30521817
DOI: 10.1016/j.survophthal.2018.11.003

Abstract

A 45-year-old white woman presented with chronic bilateral, painless, progressive, peripheral vision loss. She was found to have bilateral optic atrophy and nonenhancing multifocal white matter lesions on magnetic resonance imaging of the brain. Cerebrospinal fluid analysis showed an elevated level of myelin basic protein. She was diagnosed as having the carrier state of X-linked adrenoleukodystrophy. X-linked adrenoleukodystrophy can mimic the clinical and radiographic features of multiple sclerosis in a female carrier. To our knowledge, this is the first case report of bilateral optic atrophy in a female X-linked adrenoleukodystrophy carrier in the English ophthalmic literature.

Keywords: Carrier; X-linked; adrenoleukodystrophy; multiple sclerosis; optic neuropathy.

Publication types

Case Reports

MeSH terms

Adrenoleukodystrophy / complications*
Carrier State / pathology*
Female
Humans
Middle Aged
Optic Atrophy / etiology*