TY - JOUR
T1 - The X factor
AU - Shamim, Muhammad Musab
AU - Vickers, Aroucha
AU - Lee, Andrew G.
AU - Costello, Fiona
PY - 2019/11/1
Y1 - 2019/11/1
N2 - 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.
AB - 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.
KW - Carrier
KW - X-linked
KW - adrenoleukodystrophy
KW - multiple sclerosis
KW - optic neuropathy
UR - http://www.scopus.com/inward/record.url?scp=85060088687&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85060088687&partnerID=8YFLogxK
U2 - 10.1016/j.survophthal.2018.11.003
DO - 10.1016/j.survophthal.2018.11.003
M3 - Article
C2 - 30521817
AN - SCOPUS:85060088687
SN - 0039-6257
VL - 64
SP - 876
EP - 883
JO - Survey of Ophthalmology
JF - Survey of Ophthalmology
IS - 6
ER -