American journal of ophthalmology case reports · 2020
A rare case of neurofibromatosis type I with unilateral congenital ectropion uveae and glaucoma.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Venkataraman Prasanna, Manapakkam Madhuri, Mohan Neethu
Аннотация
PURPOSE: Neurofibromatosis Type I (NF-1) is a neurocutaneous disease affecting the skin, eye and peripheral nervous system. Congenital glaucoma is a rare association, but can be a prelude to the diagnosis of NF-1 later in life. We report this unusual association in a child and discuss the possible underlying pathophysiologic mechanisms.
OBSERVATIONS: A nine year old female child on treatment for glaucoma in the right eye was referred to us for definitive management. Her ocular evaluation was remarkable for reduced visual acuity, megalocornea with buphthalmos, congenital ectropionuveae, Lisch nodules and glaucomatous optic neuropathy in the right eye. Systemic evaluation revealed café-au-lait spots on the chest and back. A diagnosis of Neurofibromatosis Type I with congenital ectropion uveae and glaucoma was arrived at and neuroimaging failed to detect any optic pathway gliomas. In view of advanced glaucomatous neuropathy, a conservative therapy was recommended.
CONCLUSIONAND IMPORTANCE: Unilateral congenital glaucomas with ectropion uveae are likely to be associated with NF-1. These children should be monitored closely for glaucoma progression and may require neurological evaluation including imaging studies to exclude optic pathway gliomas.
OBSERVATIONS: A nine year old female child on treatment for glaucoma in the right eye was referred to us for definitive management. Her ocular evaluation was remarkable for reduced visual acuity, megalocornea with buphthalmos, congenital ectropionuveae, Lisch nodules and glaucomatous optic neuropathy in the right eye. Systemic evaluation revealed café-au-lait spots on the chest and back. A diagnosis of Neurofibromatosis Type I with congenital ectropion uveae and glaucoma was arrived at and neuroimaging failed to detect any optic pathway gliomas. In view of advanced glaucomatous neuropathy, a conservative therapy was recommended.
CONCLUSIONAND IMPORTANCE: Unilateral congenital glaucomas with ectropion uveae are likely to be associated with NF-1. These children should be monitored closely for glaucoma progression and may require neurological evaluation including imaging studies to exclude optic pathway gliomas.