U
NIVERSITY
O
PHTHALMOLOGY
C
ONSULTANTS
C
ASE OF THE
M
ONTH
CASE #21
N
EURO-OPHTHALMOLOGY
ADDITIONAL EXTRAOCULAR FINDING
Adenoma sebaceum was noted.
WHAT IS THE DIFFERENTIAL DIAGNOSIS?
The patient’s history as well as the clinical findings, including adenoma sebaceum and fundus lesions, and the imaging findings are most consistent with a phakomatosis. The phakomatoses include
neurofibromatosis
Sturge-Weber syndrome
von Hippel-Lindau disease
ataxia telangiectasia
Wyburn-Mason syndrome
tuberous sclerosis.
What is the diagnosis?
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