National Institutes of Health Consensus Development Conference Statement on Acoustic Neuroma, December 11-13, 1991

Loss of social independence in patients with neurofibromatosis type 2: a follow-up study using a national registry in Japan

“…In all cases, the diagnosis of NF2 was made by physicians according to the criteria of the National Institutes of Health [ 15 ]. In Japan, patients with at least one of the following neurological symptoms are eligible for medical expense subsidies: hearing loss, facial nerve palsy, cerebellar dysfunction, decreased facial sensation, dysphagia/dysarthria, aphasia, double vision, blindness, hemiparesis, memory loss, seizures, and spinal dysfunction [ 16 ].…”

Loss of social independence in patients with neurofibromatosis type 2: a follow-up study using a national registry in Japan

“…In all cases, the diagnosis of NF2 was made by physicians according to the criteria of the National Institutes of Health [ 15 ]. In Japan, patients with at least one of the following neurological symptoms are eligible for medical expense subsidies: hearing loss, facial nerve palsy, cerebellar dysfunction, decreased facial sensation, dysphagia/dysarthria, aphasia, double vision, blindness, hemiparesis, memory loss, seizures, and spinal dysfunction [ 16 ].…”

Historical Development of Diagnostic Criteria for NF2-related Schwannomatosis

“… 18 , 19 ) In 1987, a working group from the National Institutes of Health (NIH) proposed a distinct diagnostic consensus for NF1 and NF2 based on those clinicopathologic and genetic analyses ( Supplementary Table 1 ), with NF2 and NF1 classified as clinically and molecularly distinct syndromes. 20 ) These criteria were revised in 1990 ( Supplementary Table 2 ), 21 , 22 ) with an emphasis on the presence of BVS in a high percentage of patient with NF2. Furthermore, patients could qualify for a diagnosis of NF2 if they presented with a family history of NF2 and either unilateral vestibular schwannomas or any one (in 1990; Supplementary Table 2 ) or two (in 1987; Supplementary Table 1 ) other tumors (e.g., neurofibroma, meningioma, glioma, schwannoma, or juvenile posterior subcapsular lenticular opacity) typically associated with NF2.…”

Near‐Infrared Reflectance Imaging in Retinal Diseases Affecting Young Patients

“…This autosomal dominant disorder is diagnosed based on clinical findings established in 1988 by the National Institute of Health (NIH) consensus development statement. A minimum of 2 of the following major criteria are required for diagnosis: 6 or more café au lait spots, axillary or inguinal freckling, 2 or more cutaneous neurofibromas, 1 plexiform neurofibroma, distinctive osseous lesions, optic glioma, 2 or more iris Lisch nodules, and a first-degree relative with NF1 [ 11 ]. From the early 2000s, a few reports underlined the detection of choroidal abnormalities in this disorder using imaging methods [ 12 , 13 ] and the first large cohort study was conducted in 2012 by Viola et al [ 14 ].…”

Loss of social independence in patients with neurofibromatosis type 2: a follow-up study using a national registry in Japan

“…In all cases, the diagnosis of NF2 was made by physicians according to the criteria of the National Institutes of Health [ 15 ]. In Japan, patients with at least one of the following neurological symptoms are eligible for medical expense subsidies: hearing loss, facial nerve palsy, cerebellar dysfunction, decreased facial sensation, dysphagia/dysarthria, aphasia, double vision, blindness, hemiparesis, memory loss, seizures, and spinal dysfunction [ 16 ].…”

Historical Development of Diagnostic Criteria for NF2-related Schwannomatosis

“… 18 , 19 ) In 1987, a working group from the National Institutes of Health (NIH) proposed a distinct diagnostic consensus for NF1 and NF2 based on those clinicopathologic and genetic analyses ( Supplementary Table 1 ), with NF2 and NF1 classified as clinically and molecularly distinct syndromes. 20 ) These criteria were revised in 1990 ( Supplementary Table 2 ), 21 , 22 ) with an emphasis on the presence of BVS in a high percentage of patient with NF2. Furthermore, patients could qualify for a diagnosis of NF2 if they presented with a family history of NF2 and either unilateral vestibular schwannomas or any one (in 1990; Supplementary Table 2 ) or two (in 1987; Supplementary Table 1 ) other tumors (e.g., neurofibroma, meningioma, glioma, schwannoma, or juvenile posterior subcapsular lenticular opacity) typically associated with NF2.…”

Near‐Infrared Reflectance Imaging in Retinal Diseases Affecting Young Patients

“…This autosomal dominant disorder is diagnosed based on clinical findings established in 1988 by the National Institute of Health (NIH) consensus development statement. A minimum of 2 of the following major criteria are required for diagnosis: 6 or more café au lait spots, axillary or inguinal freckling, 2 or more cutaneous neurofibromas, 1 plexiform neurofibroma, distinctive osseous lesions, optic glioma, 2 or more iris Lisch nodules, and a first-degree relative with NF1 [ 11 ]. From the early 2000s, a few reports underlined the detection of choroidal abnormalities in this disorder using imaging methods [ 12 , 13 ] and the first large cohort study was conducted in 2012 by Viola et al [ 14 ].…”

Loss of social independence in patients with neurofibromatosis type 2: a follow-up study using a national registry in Japan

“…In all cases, the diagnosis of NF2 was made by physicians according to the criteria of the National Institutes of Health [ 15 ]. In Japan, patients with at least one of the following neurological symptoms are eligible for medical expense subsidies: hearing loss, facial nerve palsy, cerebellar dysfunction, decreased facial sensation, dysphagia/dysarthria, aphasia, double vision, blindness, hemiparesis, memory loss, seizures, and spinal dysfunction [ 16 ].…”

Historical Development of Diagnostic Criteria for NF2-related Schwannomatosis

“… 18 , 19 ) In 1987, a working group from the National Institutes of Health (NIH) proposed a distinct diagnostic consensus for NF1 and NF2 based on those clinicopathologic and genetic analyses ( Supplementary Table 1 ), with NF2 and NF1 classified as clinically and molecularly distinct syndromes. 20 ) These criteria were revised in 1990 ( Supplementary Table 2 ), 21 , 22 ) with an emphasis on the presence of BVS in a high percentage of patient with NF2. Furthermore, patients could qualify for a diagnosis of NF2 if they presented with a family history of NF2 and either unilateral vestibular schwannomas or any one (in 1990; Supplementary Table 2 ) or two (in 1987; Supplementary Table 1 ) other tumors (e.g., neurofibroma, meningioma, glioma, schwannoma, or juvenile posterior subcapsular lenticular opacity) typically associated with NF2.…”

Near‐Infrared Reflectance Imaging in Retinal Diseases Affecting Young Patients

“…This autosomal dominant disorder is diagnosed based on clinical findings established in 1988 by the National Institute of Health (NIH) consensus development statement. A minimum of 2 of the following major criteria are required for diagnosis: 6 or more café au lait spots, axillary or inguinal freckling, 2 or more cutaneous neurofibromas, 1 plexiform neurofibroma, distinctive osseous lesions, optic glioma, 2 or more iris Lisch nodules, and a first-degree relative with NF1 [ 11 ]. From the early 2000s, a few reports underlined the detection of choroidal abnormalities in this disorder using imaging methods [ 12 , 13 ] and the first large cohort study was conducted in 2012 by Viola et al [ 14 ].…”