Asymptomatic Retinal Vein Occlusion in a 13-Year-Old With Heterozygous Deletion of the PMP22 Gene and a Diagnosis of Hereditary Neuropathy With Liability to Pressure Palsies

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Title Asymptomatic Retinal Vein Occlusion in a 13-Year-Old With Heterozygous Deletion of the PMP22 Gene and a Diagnosis of Hereditary Neuropathy With Liability to Pressure Palsies
Creator Norman A. Saffra, MD; Trisha S. Emborgo. DO; Emma C. Laureta, MD; David S. Kirsch, MD; Ludovico Guarini, MD
Affiliation Department of Ophthalmology (NAS), Maimonides Medical Center, Brooklyn, New York; Department of Ophthalmology (NAS, TSE, DSK), St. John's Episcopal Hospital, Far Rockaway, New York; Department of Pediatric Neurology (ECL), Northwell Health, New Hyde Park, New York; and Division of Pediatric Hematology/ Oncology (LG), Maimonides Children Hospital, Maimonides Medical Center, Brooklyn, New York
Abstract Heterozygous deletion of the PMP22 gene causes hereditary neuropathy with liability to pressure palsies (HNPP). PMP22 transcripts are found in myelinating Schwann cells of the peripheral nervous system (1). To the best of our knowledge, this is the first report of an asymptomatic retinal vein occlusion (RVO) in a pediatric patient with HNPP with a novel heterozygous deletion of PMP22.
Subject PMP22 Gene; Hereditary Neuropathy; Retinal Vein Occlusion
OCR Text Show
Date 2022-03
Language eng
Format application/pdf
Type Text
Publication Type Journal Article
Source Journal of Neuro-Ophthalmology, March 2022, Volume 42, Issue 1
Collection Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/
Publisher Lippincott, Williams & Wilkins
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management © North American Neuro-Ophthalmology Society
ARK ark:/87278/s6hra8hc
Setname ehsl_novel_jno
ID 2197436
Reference URL https://collections.lib.utah.edu/ark:/87278/s6hra8hc
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