Unusual ocular presentation of von Hippel-Lindau disease.
METHODS
We report a young girl who first presented with a unilateral total exudative retinal detachment diagnosed as Coats' disease. Eight years later, when she presented with classical retinal hemangioblastomas with reduced vision in the fellow eye, the diagnosis of von Hippel-Lindau (VHL) disease was confirmed.


CONCLUSIONS
This case highlights the importance of considering the possibility of VHL in atypical cases of Coats' disease and unusual sporadic cases of unexplained unilateral exudative retinal detachment. The identification of VHL mutations and subsequent screening allows early diagnosis and treatment of asymptomatic retinal or central nervous system hemangioblastomas, as well as other malignancies associated with this syndrome.
Valenzuela
Alejandra
A
Department of Ophthalmology and Visual Sciences, The Hospital for Sick Children, Toronto, Ont.
Druker
Harriet
H
Malkin
David
D
Gallie
Brenda
B
Héon
Elise
E
D000293:Adolescent; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D018325:Hemangioblastoma / Q000175:diagnosis*; D006801:Humans; D012333:RNA, Messenger / Q000235:genetics; D012163:Retinal Detachment / Q000175:diagnosis; D019572:Retinal Neoplasms / Q000175:diagnosis*; D014786:Vision Disorders / Q000175:diagnosis; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics; D006623:von Hippel-Lindau Disease / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery
D012333:RNA, Messenger; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human