Refractive errors in neurofibromatosis type 1 and type 2

Pediatric audiologic profile in type 1 and type 2 neurofibromatosis.

The neurofibromatoses with two subclasses known as NF1 and NF2 are two genetically distinct, autosomal dominantly inherited conditions with significant ramifications in the human auditory system. NF1 is a multisystem progressive disorder that can frequently involve portions of the auditory system in diverse and subtle ways and in which no characteristic audiologic findings can be discerned. NF2...

Neurofibromatosis type 2 D

Neurofibromatosis type 2 is an often devastating autosomal dominant disorder which, until relatively recently, was confused with its more common namesake neurofibromatosis type 1. Subjects who inherit a mutated allele of the NF2 gene inevitably develop schwannomas, aVecting particularly the superior vestibular branch of the 8th cranial nerve, usually bilaterally. Meningiomas and other benign ce...

Neurofibromatosis type 2.

Neurofibromatosis type 2 (NF2) is a rare syndrome characterized by bilateral vestibular schwannomas, multiple meningiomas, cranial nerve tumors, spinal tumors, and eye abnormalities. NF2 presents unique challenges to the otologist because hearing loss may be the presenting complaint leading to the diagnosis of the disorder. Care of patients with NF2 requires knowledge of all tumors and symptoms...

Neurofibromatosis type 1 revisited.

Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a worldwide incidence of approximately 1 per 2500 to 3000 individuals. Caused by a germ-line-inactivating mutation in the NF1 gene on chromosome 17, the disease is associated with increased morbidity and mortality. In the past several years, significant progress has been made in standardizing management of the major clinical...

Hemostasis and Type 1 Neurofibromatosis