Results 1 to 10 of about 1,775 (150)
Nodules de Lisch dans la maladie de Von Recklinghausen [PDF]
The Pan African Medical Journal, 2014 La maladie de Von Recklinghausen ou neurofibromatose de type I (NF1) fait partie du groupe des phacomatoses. C'est une maladie génétique qui touche autant les femmes que les hommes. Elle résulte d'un désordre précoce de l'embryogenèse.
Chama Daoudi, Rajae Daoudi
doaj +7 more sources
Nodules de lisch dans la neurofibromatose type 1 [PDF]
The Pan African Medical Journal, 2017 La neurofibromatose 1 (NF1) ou maladie de Von Recklinghausen est une maladie qui se manifeste par des taches café au lait cutanées et des neurofi bromes. C'est une des maladies génétiques les plus fréquentes à transmission autosomique dominant.
Yassine Abaloun, Yousra Ajhoun
doaj +3 more sources
Nodules de lisch: marqueur ophtalmologique de la neurofibromatose de type 1 [PDF]
Pan African Medical Journal, 2022 Von Recklinghausen disease or neurofibromatosis type I (NF1) is the most common phacomatosis. It is inherited in an autosomal dominant manner. Lisch nodules are the most common ophthalmic manifestation of NF1. They are reported in 73-95% of cases.
Kawtar Bouirig, Lalla ouafae Cherkaoui
openaire +3 more sources
Nodules de lisch dans la maladie de Von Recklinghausen
PAMJ Clinical Medicine, 2019 La maladie de Von Recklinghausen est une maladie systémique génétique et hétérogène. L´atteinte oculaire au cous de cette phacomatose est rare mais pathognomonique.
Kawtar Hessaki
doaj +2 more sources
Atención Primaria Práctica, 2022 Resumen: Se presenta el caso de un glioma en ambos nervios ópticos en un paciente con antecedentes médicos de neurofibromatosis tipo 1. El paciente presentaba dolor retro-ocular bilateral constante, refractario a tratamiento analgésico y visión borrosa ...
Alejandra Frontela +1 more
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Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 2015 Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz +5 more
core +6 more sources
Frontiers in Pediatrics, 2021 Background: Neurofibromatosis type 1 (NF-1) is a common autosomal dominant disorder caused by mutations in the NF1 gene. It is characterized by multiple café-au-lait macules, cutaneous neurofibromas, optic glioma, Lisch nodules, and axillary and inguinal
Yi-Ting Lu +7 more
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BMC Medical Genomics, 2023 Neurofibromatosis type 1 (NF1) presents an autosomal dominant, haploinsufficient, and multisystemic disorder with patches of skin café-au-lait spots, lisch nodules in the iris, even tumors in the peripheral nervous system or fibromatous skin.
Lisha Yang +6 more
doaj +1 more source
Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation
Balkan Journal of Medical Genetics, 2022 Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome caused by mutations on the NF1 gene, which is located at chromosome 17q11.2. Although an autosomal dominant inheritance pattern is well-established, about half of new cases are the result of de ...
Sayın Kocakap DB +3 more
doaj +1 more source
A review of the role of ultrasound biomicroscopy in glaucoma associated with rare diseases of the anterior segment [PDF]
, 2016 Ultrasound biomicroscopy is a non-invasive imaging technique, which allows high-resolution evaluation of the anatomical features of the anterior segment of the eye regardless of optical media transparency.
Abdolrahimzadeh, B +5 more
core +2 more sources