Ocular manifestations of neurofibromatosis 1 - m. Recklinghausen.
Neurofibromatosis type 1 (NF 1) - morbus von Recklinghausen is an autosomal dominant phacomatosis with variable expression. The gene for NF 1 is located on chromosome 17q11.2. Incidence is 1 in 3500 live births. The diagnosis is made on the basis of clinical manifestations. Diagnosis requires the presence of 2 or more major criteria: 6 or more café au lait spots, 2 or more cutaneous neurofibromas or 1 plexiform neurofibroma, an optic nerve glioma, 2 or more iris Lisch nodules, axillary or inguinal freckling, bony lesions--pseudoarthrosis, sphenoid wing hypoplasia, or a first-degree relative with NF 1.
Gromova
M
M
Department of Paediatric Ophtalmology, Comenius University, Children Teaching Hospital, Bratislava, Slovakia.
Gerinec
A
A
D006801:Humans; D009456:Neurofibromatosis 1 / Q000150:complications*; D020339:Optic Nerve Glioma / Q000150:complications / Q000175:diagnosis* / Q000601:surgery