Corkscrew retinal vessels in neurofibromatosis type 1: report of 12 cases.
OBJECTIVE
To describe a distinctive spectrum of retinal microvascular abnormalities in 12 patients with neurofibromatosis type 1 (NF-1).


METHODS
This is an observational prospective study of the ocular fundus evaluated by direct ophthalmoscopy with or without fluorescein angiography, to investigate retinal microvascular abnormalities in 32 patients with NF-1 and in 30 control subjects. The evaluation included a complete general and neurological physical examination and in some cases computed tomography, magnetic resonance imaging with gadolinium-DTPA, or both.


RESULTS
The occurrence of a distinctive spectrum of retinal microvascular abnormalities is described in 12 patients with NF-1 (37.5%). At the lower end of the spectrum, present in 10 patients, the anomaly consisted of minuscule second or third order tortuous venules, which were called "corkscrew retinal vessels." These were usually isolated but in a few cases multiple. They flow towards the superior or inferior temporal veins. They had a length of one to two disc diameters. They ended either in a minute tuft or vanished on the retinal surface. The upper end of the spectrum was seen in only two patients. One of them had an exceptionally large venous anastomosis on the nasal retina and the other had an arteriovenous malformation extending over one retinal quadrant. None of the patients in the control group had such retinal microvascular abnormalities.


CONCLUSIONS
The "corkscrew" retinal vessels described in this report constitute a broad spectrum of microvascular markers in NF-1 patients.
Muci-Mendoza
R
R
Neuro-Ophthalmology Unit, Hospital Vargas de Caracas, José María Vargas School of Medicine, Central University of Venezuela.
Ramella
M
M
Fuenmayor-Rivera
D
D
D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D009456:Neurofibromatosis 1 / Q000473:pathology*; D011446:Prospective Studies; D012171:Retinal Vessels / Q000473:pathology*