[Dragged disc syndrome in a patient presenting neurofibromatosis type II: a case study].
We report a case of dragged disc syndrome associated with neurofibromatosis type II (NF2). A 5-year-old girl with amblyopia (right eye, 20/200; left eye, 20/40) presented with dragged disk syndrome and a posterior subcapsular cataract in the left eye associated with an epiretinal membrane in the right eye. Five years later, she developed exophthalmos in the right eye associated with a cervical mass. MRI revealed schwannoma developing in the left optic nerve sheath associated with a cervicothoracic schwannoma. The child was diagnosed with NF2. Association of posterior subcapsular cataract with macular epiretinal membranes is highly suggestive of NF2, although the dragged disk syndrome has not been previously reported in NF2 to our knowledge. It may also be an ocular feature of this disease.
Gicquel
J-J
JJ
Service d'Ophtalmologie.
Vabres
P
P
Mercié
M
M
Klossek
J-M
JM
Dighiero
P
P
D002386:Cataract / Q000209:etiology*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008268:Macular Degeneration / Q000209:etiology; D016518:Neurofibromatosis 2 / Q000150:complications* / Q000473:pathology; D009901:Optic Nerve Diseases / Q000209:etiology; D013577:Syndrome