Pseudopapilledema: A Novel Finding in Hereditary Angiopathy With Nephropathy, Aneurysm, and Muscle Cramps (HANAC) Syndrome

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Identifier 20210220_nanos_posters_041
Title Pseudopapilledema: A Novel Finding in Hereditary Angiopathy With Nephropathy, Aneurysm, and Muscle Cramps (HANAC) Syndrome
Creator Shira Simon; Nicholas Volpe; Gabor Deak; Susan Quaggin; Lee Jampol
Affiliation (SS) (NV) (GD) (SQ) (LJ) Northwestern Memorial Hospital, Chicago, Illinois
Subject Genetic Disease; Neuro-ophth & Systemic Disease (eg. MS, MG, Thyroid); Pseudotumor Cerebri
Description Hereditary Angiopathy with Nephropathy, Aneurysm, and Muscle Cramps (HANAC) Syndrome is a recently described autosomal dominant disorder resulting from COL4A1 mutations. Collagen 4 is common in basement membranes. Abnormal, highly tortuous retinal vessels have been described in affected pedigrees along with intracranial aneurysms, and renal cysts. No optic nerve pathology has previously been described with this entity.
Date 2021-02
Language eng
Format application/pdf
Type Text
Source 2021 North American Neuro-Ophthalmology Society Annual Meeting
Relation is Part of NANOS Annual Meeting 2021: Poster Session I: Neuro-Ophthalmic Disorders of Neurologic and Systemic Diseases
Collection Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Holding Institution North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416
Rights Management Copyright 2021. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s6g799cb
Context URL The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/
Setname ehsl_novel_nam
ID 1675723
Reference URL https://collections.lib.utah.edu/ark:/87278/s6g799cb
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