Ocular Alterations in a Rare Case of Segmental Neurofibromatosis Type 1 with a Non-Classified Mutational Variant of the NF-1 Gene.
Neurofibromatosis type 1 (NF-1) is an autsomal dominant disorder which can occasionally result from somatic mosaicism and manifest as segmental forms of the disease.



A 37-year-old woman with ascertained NF-1, based on clinical diagnostic criteria and genetic analysis, was referred for ophthalmological evaluation. Genetic analysis, magnetic resonance imaging (MRI), complete ophthalmological examination, and near infrared reflectance (NIR) images at 815 nm of the retina were obtained.



Genetic analysis revealed a non-classified mutational variant of the NF-1 gene identified as NM_000267.3:c2084T > C (p.Leu695Pro.T). MRI demonstrated non-symptomatic bilateral optic nerve gliomas. The only cutaneous sign was a subcutaneous neurofibroma of the posterior cervical region. Slit-lamp examination showed bilateral Lisch nodules. NIR images of the retina did not show any choroidal hamartomas.



We report a rare case of segmental neurofibromatosis with a non-classified mutational variant of the NF-1 gene described in only one previous case in the literature. The patient presented with clinical features of NF-1 localized to the head and neck region, compatible with diagnosis of segmental NF-1. Interestingly, ocular manifestations included bilateral optic nerve gliomas and Lisch nodules, but no choroidal hamartomas.
a Ophthalmology Unit, DAI Testa/Collo, Azienda Policlinico Umberto I, University of Rome "Sapienza" , Rome , Italy and.
Solmaz
S
Abdolrahimzadeh
a Ophthalmology Unit, DAI Testa/Collo, Azienda Policlinico Umberto I, University of Rome "Sapienza" , Rome , Italy and.
Domenica Carmen
DC
Piraino
a Ophthalmology Unit, DAI Testa/Collo, Azienda Policlinico Umberto I, University of Rome "Sapienza" , Rome , Italy and.
Rocco
R
Plateroti
b Ophthalmology Unit, NESMOS Department , St. Andrea Hospital, Faculty of Medicine and Psychology, University of Rome "Sapienza" , Rome , Italy.
Gianluca
G
Scuderi
b Ophthalmology Unit, NESMOS Department , St. Andrea Hospital, Faculty of Medicine and Psychology, University of Rome "Sapienza" , Rome , Italy.
Santi Maria
SM
Recupero
D000328:Adult; D005260:Female; D016514:Genes, Neurofibromatosis 1; D006222:Hamartoma / Q000175:diagnosis* / Q000235:genetics; D006258:Head and Neck Neoplasms / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007259:Infrared Rays; D007499:Iris Diseases / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D017253:Neurofibromatoses / Q000235:genetics / Q000473:pathology*; D020339:Optic Nerve Glioma / Q000175:diagnosis* / Q000235:genetics
Lisch nodules; mosaicism; neurofibromatosis type 1 gene; segmental neurofibromatosis