Burke J P, West N F, Strachan I M
Department of Ophthalmology, Royal Hallamshire Hospital, Sheffield, England.
J Pediatr Ophthalmol Strabismus. 1991 Jan-Feb;28(1):41-4.
Klippel-Trenaunay-Weber syndrome is a rare phacomatosis of uncertain aetiology, variable expression, and disputed pathogenesis, whose cardinal signs are cutaneous angiomas, varicosities, tissue hypertrophy, and arteriovenous fistulae. The case reported herein is the first description of an unusual variant with limb and facial hemihypertrophy, congenital nystagmus, progressive ipsilateral anisomyopia, and strabismus. We review the ophthalmic findings and report the co-occurrence of hemimegalencephaly with congenital nystagmus and ipsilateral axial anisomyopia.
