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1 Ocular Manifestations of Congenital/Inherited DiseasesWilliam Fletcher Hoyt, MDNeurofibromatosis, type 1, is an autosomal dominant phakomatosis characterized by Lisch nodules of the iris (hamartomas) plexiform neurofibromas, café-au-lait spots on the skin, and axillary freckling. Intracranial tumors such as optic pathway gliomas may occur. Disease/Diagnosis: Neurofibromatosis...
2 Ocular Manifestations of Congenital/Inherited DiseasesLarry P. Frohman, MDOn optic nerve CT scan, this patient with neurofibromatosis, type 1, shows the classic railroad-track sign of optic nerve meningioma and the kink sign of optic nerve glioma. Disease/Diagnosis: Neurofibromatosis, Type 1.
3 Ocular Manifestations of Congenital/Inherited DiseasesJacqueline A. Leavitt, MDThis 22-year-old woman has neurofibromatosis, type 2. Acuity, color plates, pupillary responses, slit-lamp examination, IOP, fields, and funduscopy are all normal. There is a 3 mm proptosis OS. The patient has recently undergone gamma knife for the acoustic tumor, and she has residual facial nerve p...
4 Ocular Manifestations of Congenital/Inherited DiseasesJacqueline A. Leavitt, MDThis 22-year-old woman has neurofibromatosis, type 2. Acuity, color plates, pupillary responses, slit-lamp examination, IOP, fields, and funduscopy are all normal. There is a 3 mm proptosis OS. The patient has recently undergone gamma knife for the acoustic tumor, and she has residual facial nerve p...
5 Ocular Manifestations of Congenital/Inherited DiseasesJacqueline A. Leavitt, MDThis 22-year-old woman has neurofibromatosis, type 2. Acuity, color plates, pupillary responses, slit-lamp examination, IOP, fields, and funduscopy are all normal. There is a 3 mm proptosis OS. The patient has recently undergone gamma knife for the acoustic tumor, and she has residual facial nerve p...
6 Ocular Manifestations of Congenital/Inherited DiseasesJacqueline A. Leavitt, MDThis 22-year-old woman has neurofibromatosis, type 2. Acuity, color plates, pupillary responses, slit-lamp examination, IOP, fields, and funduscopy are all normal. There is a 3 mm proptosis OS. The patient has recently undergone gamma knife for the acoustic tumor, and she has residual facial nerve p...
7 Ocular Manifestations of Congenital/Inherited DiseasesJacqueline A. Leavitt, MDThis 22-year-old woman has neurofibromatosis, type 2. Acuity, color plates, pupillary responses, slit-lamp examination, IOP, fields, and funduscopy are all normal. There is a 3 mm proptosis OS. The patient has recently undergone gamma knife for the acoustic tumor, and she has residual facial nerve p...
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