Neurofibromatosis type-1 with retinal microvascular corkscrew tortuosity

Retinal microvascular abnormalities overlying choroidal nodules in neurofibromatosis type 1

BACKGROUND Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder involving aberrant proliferation of multiple tissues of neural crest origin. Retinal vascular alterations in NF1 have rarely been reported in the literature and their nature is not clear. This study describes distinctive retinal microvascular alterations and their relationship to choroidal nodules in patients with neuro...

Corkscrew retinal vessels in neurofibromatosis type 1: report of 12 cases.

AIM 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 evaluati...

Retinal Microvascular Abnormalities in Neurofibromatosis Type 1 Associated with Congenital Retinal Macrovessels

Here, we report a case of retinal microvascular abnormalities in a patient with neurofibromatosis type 1 (NF1) associated with congenital retinal macrovessels. An abnormal retinal macrovessel, crossing the macula horizontally, was detected in the right eye. Additionally, retinal microvascular abnormalities were detected. Eight years after the initial visit, the retinal microvascular abnormaliti...

Retinal microvascular abnormalities overlying choroidal nodules in 1 neurofibromatosis type 1 2 3 4

Retinal glioneuronal hamartoma in neurofibromatosis type 1.

Report of a Case. Our patient was born at term with buphthalmos and proptosis of her right eye, accompanied by corneal clouding and increased tearing. She was subsequently noted to have right sphenoid wing dysplasia, multiple cutaneous plexiform neuromas of the right eyelids and face (fifth nerve distribution), right hemispheric dysplastic polymicrogyria, and a seizure disorder. She was diagnos...